Emeritus Faculty - University Medical Line, Ophthalmology
Doctor of Medicine, University of Iowa College of Medicine (1981)
Flexible Internship, St. Mary’s Hospital, medical/surgical (1982)
Ophthalmology Residency, Eye Institute, Medical College of Wisconsin (1985)
Ophthalmology Fellowship, Indiana University School of Medicine, Pediatric (1986)
Fellowship, Johns Hopkins Hospital, Wilmer Ophthalmological Institute, Ocular Genetics (1988)
Current Research and Scholarly Interests
Gene linkage - tuberous sclerosis; stabismus and, molteno implants; congenital stationary night blindness
- Independent Studies (5)
A case of complicated strabismus in a child with an orbital floor fracture.
Journal of pediatric ophthalmology and strabismus
; 36 (3): 141–44
View details for PubMedID 10358818
A 5-year old boy presented with congenital nystagmus.
Journal of pediatric ophthalmology and strabismus
; 38 (1): 36–37; discussion 37–38
View details for PubMedID 11201916
10-year-old boy with Duane syndrome OS.
Journal of pediatric ophthalmology and strabismus
; 37 (2): 107–10
View details for PubMedID 10779269
Stereopsis testing in a preschool vision screening program.
Journal of pediatric ophthalmology and strabismus
; 23 (6): 298–302
We conducted a preschool vision screening study using stereopsis testing with the Random Dot E and Lang stereotests as a complement to visual acuity measurement. Over 6000 children were screened. Stereopsis testing at a threshold of 600 seconds of arc was cognitively easier for the children than visual acuity measurement. At this threshold there was no effect on reducing the rate of visual acuity overreferrals, but ten children with abnormal binocular vision were detected who were not referred by visual acuity criteria. Though a large number of children passed only one of the two stereotests, there was no significant difference in their degree of difficulty. Stereopsis testing with these two stereotests may be a useful adjunct to preschool vision screening programs though further studies are required.
View details for PubMedID 3454373
Survey of practice patterns for the management of ophthalmic genetic disorders among AAPOS members: report by the AAPOS Genetic Eye Disease Task Force.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
To better understand AAPOS member pediatric ophthalmologists' knowledge and needs regarding genetic eye disorders, the AAPOS Genetic Eye Disease Task Force developed a 16-question survey that was circulated to national and international AAPOS members. Responses to questions on practice patterns, baseline knowledge, and educational interests regarding patients with suspected ophthalmic genetic disorders were collected. A majority of respondents (93%) evaluate patients with suspected genetic disorders. Knowledge gaps were present in heritability of certain conditions, genetic testing strategies, and referral to clinical trials. Most respondents expressed interest in further education in these areas. A model for care is proposed as a first step in the education process.
View details for DOI 10.1016/j.jaapos.2019.04.005
View details for PubMedID 31233830
Prenatal treatment of ornithine transcarbamylase deficiency.
Molecular genetics and metabolism
Patients with neonatal urea cycle defects (UCDs) typically experience severe hyperammonemia during the first days of life, which results in serious neurological injury or death. Long-term prognosis despite optimal pharmacological and dietary therapy is still poor. The combination of intravenous sodium phenylacetate and sodium benzoate (Ammonul®) can eliminate nitrogen waste independent of the urea cycle. We report attempts to improve outcomes for males with severe ornithine transcarbamylase deficiency (OTCD), a severe X-linked condition, via prenatal intravenous administration of Ammonul and arginine to heterozygous carrier females of OTCD during labor.Two heterozygote OTCD mothers carrying male fetuses with a prenatal diagnosis of OTCD received intravenous Ammonul, arginine and dextrose-containing fluids shortly before birth. Maintenance Ammonul and arginine infusions and high-caloric enteral nutrition were started immediately after birth. Ammonul metabolites were measured in umbilical cord blood and the blood of the newborn immediately after delivery. Serial ammonia and biochemical analyses were performed following delivery.Therapeutic concentrations of Ammonul metabolites were detected in umbilical cord and neonatal blood samples. Plasma ammonia and glutamine levels in the postnatal period were within the normal range. Peak ammonia levels in the first 24-48h were 53mcmol/l and 62mcmol/l respectively. The boys did not experience neurological sequelae secondary to hyperammonemia and received liver transplantation at ages 3months and 5months. The patients show normal development at ages 7 and 3years.Prenatal treatment of mothers who harbor severe OTCD mutations and carry affected male fetuses with intravenous Ammonul and arginine, followed by immediate institution of maintenance infusions after delivery, results in therapeutic levels of benzoate and phenylacetate in the newborn at delivery and, in conjunction with high-caloric enteral nutrition, prevents acute hyperammonemia and neurological decompensation. Following initial medical management, early liver transplantation may improve developmental outcome.
View details for PubMedID 29396029
Peripheral Avascular Retina in a Term Male Neonate With Microvillus Inclusion Disease and Pancreatic Insufficiency
OPHTHALMIC SURGERY LASERS & IMAGING RETINA
2015; 46 (5): 589-591
The authors present the first case of peripheral avascular retina in a term male neonate with pancreatic exocrine insufficiency, atypical microvillus inclusion disease, flat tympanograms, and recurrent urinary tract infections. Clinical examination showed avascular peripheral retina to posterior zone II temporally, with a flat stage 1-like demarcation line, and no plus disease. Genetic testing results were normal. The patient developed peripheral neovascularization and underwent panretinal photocoagulation. This case likely represents mild Norrie disease, familial exudative vitreoretinopathy, or incontinentia pigmenti due to a Wnt signaling abnormality. While these conditions are usually more severe, a variable spectrum of Wnt abnormalities exists throughout the body.
View details for DOI 10.3928/23258160-20150521-14
View details for Web of Science ID 000359292500014
View details for PubMedID 26057766
PRENATAL TREATMENT OF ORNITHINE TRANSCARBAMYLASE DEFICIENCY
ACADEMIC PRESS INC ELSEVIER SCIENCE. 2014: 248
View details for Web of Science ID 000332500200048
Sudden Onset Vision Loss in an 8-year-old Female with McCune-Albright Syndrome.
2014; 31 (1): 80-82
We describe a case of an 8-year-old girl with large irregular café au lait macules on the right cheek and right lower extremity presenting with sudden onset vision loss and found to have polyostotic fibrous dysplasia on imaging. The classic triad of McCune-Albright syndrome is discussed along with the importance of recognition in patients with partial presentation. This case also highlights a rare and potentially devastating neurologic complication of McCune-Albright syndrome, as well as the need for early diagnosis and continual surveillance in these patients.
View details for DOI 10.1111/j.1525-1470.2012.01800.x
View details for PubMedID 23013381
- Retinal Glioneuronal Hamartoma in Neurofibromatosis Type 1 ARCHIVES OF OPHTHALMOLOGY 2012; 130 (10): 1335-1337
Orbital Recurrence of B-Progenitor Acute Lymphoblastic Leukemia in a Child
JOURNAL OF PEDIATRIC OPHTHALMOLOGY & STRABISMUS
2010; 47 (1): 46-50
Orbital mass is an exceedingly rare presentation of acute lymphoblastic leukemia. This report describes a 12-year-old boy with recurrent orbital pre-B-cell acute lymphoblastic leukemia and reviews the literature on the incidence, presentation, prognosis, and management of orbital tumors in acute lymphoblastic leukemia. Early diagnosis and treatment of orbital acute lymphoblastic leukemia with a multidisciplinary approach is essential to minimize or prevent deterioration of vision and optimize clinical outcomes.
View details for DOI 10.3928/01913913-20100106-11
View details for PubMedID 20128555
Sclerocornea associated with the chromosome 22q11.2 deletion syndrome
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
2008; 146A (7): 904-909
Reported ocular findings in the 22q11.2 deletion syndrome (which encompasses the phenotypes of DiGeorge, velocardiofacial, and Takao (conotruncal-anomaly-face) syndromes) have included posterior embryotoxon (prominent, anteriorly displaced Schwalbe's line at the corneal limbus or edge), retinal vascular tortuosity, eyelid hooding, strabismus, and astigmatism. We present seven 22q11.2 patients from multiple centers with sclerocornea, an eye finding previously unreported in the literature. Four boys and three girls were identified with sclerocornea, systemic DGS/VCFS findings, and fluorescence in situ hybridization (FISH)-confirmed microdeletion at chromosome 22q11.2. FISH diagnosis was perinatal in six patients but at 2 years of age in one child. Sclerocornea was bilateral in five patients. Findings included descemetocele (five eyes), microophthalmos (one eye), iridocorneal adhesions (one bilateral case), and severe anterior segment dysgenesis (one eye). Two patients underwent bilateral corneal transplantation; another two were scheduled for possible unilateral transplant. Sclerocornea is a static congenital condition in which the cornea is opaque and vascularized and resembles the sclera. The novel finding of sclerocornea suggests that a genetic locus at 22q11.2 may be involved in anterior segment embryogenesis. In most of our patients, the diagnostic process was underway, but in one patient 22q11.2 deletion was not suspected until after the child had already been undergoing treatment for sclerocornea for 2 years. Sclerocornea should be added to the clinical manifestations of the 22q11.2 deletion syndrome. Ophthalmologists diagnosing sclerocornea in children with systemic findings suggestive of 22q11.2 deletion should ensure appropriate genetic referral.
View details for DOI 10.1002/ajmg.a.32156
View details for Web of Science ID 000254587400014
View details for PubMedID 18324686
View details for PubMedCentralID PMC2831198
Ocular involvement as the initial manifestation of Wegener's granulomatosis in children
Annual Meeting of the Association-for-Research-in-Vision-and-Ophthalmology
MOSBY-ELSEVIER. 2008: 94–96
Ophthalmic manifestations are noted in about 50% of adults with Wegener's granulomatosis. Wegener's granulomatosis is a rare disease in the pediatric age group. The disease may present initially with ocular manifestations. We report the largest series to date of children whose ocular findings were the initial presenting signs of Wegener's granulomatosis.
View details for DOI 10.1016/j.jaapos.2007.09.006
View details for Web of Science ID 000254015700029
View details for PubMedID 18083587
- Choroidal infiltration in juvenile myelomonocytic leukaemia BRITISH JOURNAL OF OPHTHALMOLOGY 2006; 90 (8): 1067-1067
The incidence and course of retinopathy of prematurity: findings from the early treatment for retinopathy of prematurity study.
2005; 116 (1): 15–23
To estimate the incidence of retinopathy of prematurity (ROP) in the Early Treatment for Retinopathy of Prematurity (ETROP) Study and compare these results with those reported in the Cryotherapy for Retinopathy of Prematurity (CRYO-ROP) Study.The ETROP Study, as part of its protocol, screened 6998 infants at 26 centers throughout the United States. Serial eye examinations were conducted for infants born weighing <1251 g, making it possible to estimate the frequency of ROP in different birth weight and gestational age categories. ROP was categorized according to the International Classification for ROP.The incidence of any ROP was 68% among infants of <1251 g. The findings were compared with those for infants born in 1986 and 1987 in the CRYO-ROP Study. The overall incidences of ROP were similar in the 2 studies, but there was more zone I ROP in the ETROP Study. Among infants with ROP, more-severe ROP (prethreshold) occurred for 36.9% of infants in the ETROP Study and 27.1% of infants in the CRYO-ROP Study. The gestational age of onset of ROP of different severities has changed very little since the CRYO-ROP Study was conducted.ROP remains a common important problem among infants with birth weights of <1251 g. The incidence of ROP, time of onset, rate of progression, and time of onset of prethreshold disease have changed little since the CRYO-ROP natural-history study.
View details for DOI 10.1542/peds.2004-1413
View details for PubMedID 15995025
Rectus muscle orbital wall fixation: A reversible profound weakening procedure
29th Annual Meeting of the American-Association-for-Pediatric-Ophthalmology-and-Strabismus
MOSBY-ELSEVIER. 2004: 473–80
Surgical treatment of third nerve palsy, sensory exotropia and strabismus secondary to anomalous innervation of the rectus muscles, frequently require large rectus muscle recessions in an attempt to maintain alignment in the primary position and reduce the effects of misinnervation. The aim of this study was to describe and evaluate the results of inactivation of a rectus muscle by its attachment to the adjacent orbital wall.Seven subjects diagnosed with third-nerve palsy (three cases), Duane syndrome (two cases), sensory exotropia (one case), and congenital aberrant innervation of vertical rectus muscles (one case) underwent rectus muscle inactivation by orbital wall fixation. The rectus muscle was disinserted from the globe and reattached to the adjacent orbital periosteum using non-absorbable sutures. This surgery was performed on the lateral rectus muscle in six subjects, and surgery was performed on both ipsilateral vertical rectus muscles in one.Postoperatively four of six patients were aligned within 12 prism diopters of orthotropia in primary position. All patients had improvement of the anomalous head posture. In Duane syndrome, lateral rectus inactivation markedly reduced co-contraction and globe retraction. No overcorrections resulted.A rectus muscle may be functionally inactivated when its insertion is attached to the orbital periosteum. Advantages of this procedure over extirpation and free tenotomy include permanent disinsertion of the muscle from globe and reversibility.
View details for DOI 10.1016/j.jaapos.2004.06.011
View details for Web of Science ID 000224685400012
View details for PubMedID 15492742
Surgical management of severe cocontraction, globe retraction, and pseudo-ptosis in Duane syndrome
28th Annual Meeting of the American-Association-for-Pediatric-Ophthalmology-and-Strabismus
MOSBY-ELSEVIER. 2004: 362–67
Correction of severe cocontraction and pseudo-ptosis present unique surgical challenges in patients with Duane syndrome.We report four Duane syndrome patients with esotropia in primary position, poor abduction, and severe cocontraction causing limitation to adduction, globe retraction, and pseudo-ptosis. All were treated with partial tendon transposition of the vertical rectus muscles augmented with Foster fixation sutures and surgical weakening of the ipsilateral lateral rectus muscle. One patient had a large recession of the lateral rectus muscle, and in three patients, the lateral rectus muscle was inactivated by removing from the globe and attaching its insertion to the lateral orbital wall.Postoperatively, all patients were aligned within eight prisms diopters of orthotropia, had no face turn, and improved adduction and abduction. The two patients who had restriction to abduction on intraoperative forced ductions also had residual esotropia in primary position and underwent recession of the ipsilateral medial rectus muscle as a second procedure. Postoperative binocular single visual field was enlarged by 56 to 500% in the three patients who were tested preoperatively and postoperatively. Globe retraction and cocontraction were markedly relieved. Palpebral fissure widened 1.0 and 6.0 mm in two patients who had preoperative and postoperative measurements.In Duane syndrome patients, severe cocontraction, globe retraction, and limitation to adduction may improve if the lateral rectus muscle is maximally recessed or its insertion is inactivated from the globe. Partial transposition of the vertical rectus muscles augmented with Foster sutures improved the angle of esotropia in primary position and abduction. Medial rectus muscle recession is indicated when the passive forced duction test reveals moderate-to-severe restriction to abduction.
View details for DOI 10.1016/j.jaapos.2004.04.004
View details for Web of Science ID 000223355600012
View details for PubMedID 15314598
- Churg-Strauss syndrome in a child: retina and optic nerve findings BRITISH JOURNAL OF OPHTHALMOLOGY 2004; 88 (7): 971-972
Partial rectus muscle-augmented transpositions in abduction deficiency
28th Annual Meeting of the American-Association-for-Pediatric-Ophthalmology-and-Strabismus
MOSBY-ELSEVIER. 2003: 325–32
Lateral posterior fixation sutures increase the effect of full rectus extraocular muscle transpositions. Partial rectus muscle transposition may be indicated to minimize the risk of anterior ischemia when multiple rectus muscles require surgery to achieve ocular alignment.To report a modification of full vertical rectus muscle transposition with lateral posterior fixation sutures for use in patients at risk for anterior segment ischemia.Ten cases of unilateral split rectus muscle transposition augmented with lateral posterior fixation sutures were analyzed. Five patients had Duane's syndrome with esotropia in primary position, and five patients had sixth-nerve palsy.Seven patients had a history of ipsilateral rectus muscle surgery, and three patients underwent simultaneous surgery on ipsilateral horizontal rectus muscles. In Duane's syndrome patients, the preoperative angle of deviation at distance was 15.8 +/- 5.8 prism diopters (PD) (range, 10 to 25) compared with 3.2 +/- 4.4 PD (range, 0 to 8) postoperatively (P =.005). In patients with sixth-nerve palsy, the preoperative angle of deviation at distance was 45.2 +/- 23.9 PD (range, 16 to 80) compared with -5 +/- 14.1 PD (range, -30 to 5) postoperatively (P =.004). Postoperative binocular single visual fields enlarged in seven of seven patients.Partial rectus muscle-augmented transposition allows surgery on multiple ipsilateral rectus muscles in (1) Duane's syndrome patients with esotropia, marked cocontraction, and/or limitation to both horizontal rotations and in (2) sixth-nerve palsy patients with ipsilateral medial rectus tightness. Augmented partial rectus muscle transpositions improve ocular alignment and may enlarge binocular single fields in patients with persistent deviations despite previous muscle surgery.
View details for DOI 10.1016/S1091-8531(03)00180-0
View details for Web of Science ID 000185922100006
View details for PubMedID 14566314
- Congenital circumscribed choroidal haemangioma associated with infantile hepatic haemangioendotheliomatosis BRITISH JOURNAL OF OPHTHALMOLOGY 2001; 85 (5): 626-626
Visual loss caused by pseudotumor cerebri in an infant on peritoneal dialysis
2001; 16 (3): 216-218
Infants with chronic renal insufficiency have multiple risk factors for developing pseudotumor cerebri (PTC) and are at particular risk for being diagnosed with PTC late, because of their inability to express symptoms. We describe a 13-month-old infant dependent on peritoneal dialysis, without evidence of central nervous system infection or inflammation, who developed acute vision loss secondary to PTC. Signs of PTC in infants include torticollis, inattentiveness, inability to track, facial paresis, or new-onset strabismus. Physicians responsible for the care of children with renal failure should be aware of the potential for PTC, as the diagnosis should be made as early as possible to prevent permanent visual loss.
View details for Web of Science ID 000167661800003
View details for PubMedID 11322367
Diffuse unilateral hemorrhagic retinopathy associated with accidental perinatal strangulation - A clinicopathologic report
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES
2001; 21 (3): 252-255
To report an unusual case of diffuse retinal hemorrhage associated with strangulation in a neonate with a tightly wrapped nuchal cord around his neck at birth who was noted to have eyelid and subconjunctival petechial hemorrhages upon delivery.Clinical diagnostic examination as well as postmortem gross and histopathologic examination of ocular and central nervous system structures was performed.Funduscopic and gross pathologic examination of the eyes revealed extensive unilateral retinal hemorrhage of the right eye only. This was corroborated by histopathologic studies, which revealed unilateral diffuse hemorrhage throughout all nuclear layers of the retina with a particularly dense nerve fiber layer and sub-internal limiting membrane hemorrhage in the macula along with extraocular muscle and episcleral hemorrhage. Clinical, gross, and microscopic examination also revealed multiple areas of hemorrhage involving the right side of the brain and throughout the cerebellum.Although retinal findings in nonaccidental trauma are common, accidental strangulation retinopathy in neonates is a rare occurrence. To the authors' knowledge, this case is the only documented histopathologic study of hemorrhagic retinopathy associated with strangulation in the literature.
View details for Web of Science ID 000169241600010
View details for PubMedID 11421016
- Ophthalmic features of primary oxalosis after combined liver/kidney transplantation BRITISH JOURNAL OF OPHTHALMOLOGY 2000; 84 (11): 1326-1327
- Excimer laser refractive surgery in the pediatric population JOURNAL OF PEDIATRIC OPHTHALMOLOGY & STRABISMUS 1999; 36 (4): 173-177
Wernicke encephalopathy and Beriberi during total parenteral nutrition attributable to multivitamin infusion shortage
1998; 101 (1)
Wernicke encephalopathy (WE) is an acute neurologic disorder characterized by a triad of ophthalmoplegia, ataxia, and mental confusion. WE is attributable to thiamine (vitamin B1) deficiency. Beriberi is the systemic counterpart of thiamine deficiency and often manifests in cardiovascular collapse. WE is usually associated with alcoholism and malnutrition. It has also been seen in people with gastrointestinal diseases with malabsorption. Patients who have received total parenteral nutrition (TPN) without proper replacement of thiamine have also developed WE. Since November 1996, there has been a shortage of multivitamin infusion (MVI). Many patients who were on chronic TPN with MVI ceased to receive the MVI and were converted to an oral form of the multivitamin. As a result, there have been several reports of children and adults on TPN who have developed WE as a result of thiamine deficiency. With this case report, we bring to attention the association of the MVI shortage and WE. Early diagnosis of WE is important, because if it is treated with thiamine in the acute stages, the neurologic and cardiovascular abnormalities can be reversed.We report a 20-year-old female patient with Crohn's disease who developed WE as a result of thiamine deficiency. She had Crohn's disease since age 9 years and was on chronic TPN. Two months before admission, MVI was discontinued in the TPN because of the shortage of its supply. An oral multivitamin tablet was substituted instead. She was admitted to the hospital for persistent vomiting. In the hospital, she continued to receive TPN without MVI, but continued taking an oral multivitamin preparation. Two weeks after admission, she developed signs of WE including diplopia, ophthalmoplegia, nystagmus, and memory disturbance. She also developed hypotension that was thought to be caused by beriberi. She was treated with 50 mg of intravenous thiamine. Within hours of the intravenous thiamine, her hypotension resolved. The day after the infusion, she no longer complained of diplopia, and her ophthalmoplegia had improved dramatically. Magnetic resonance imaging showed several areas of abnormally high signal on T2-weighted images in the brainstem, thalamus, and mamillary bodies. The topographic distribution of these changes was typical of WE. After 2 months, her mental status and neurologic status had recovered completely.WE and thiamine deficiency should be considered in all patients with malabsorption, malnutrition, and malignancies. WE from thiamine deficiency can occur as a result of cessation of MVI in the TPN infusion. Even if an oral multivitamin preparation is given instead of MVI, patients with malabsorption may not absorb thiamine adequately. Prompt diagnosis of WE is important because it is potentially fatal and readily treatable with thiamine supplementation. Early recognition of WE may be more difficult in children, because the classic triad of symptoms may not develop fully. Magnetic resonance imaging may be useful in these cases to confirm the diagnosis of WE. Because the shortage of MVI is expected to be a long-term, there are likely to be more cases of WE in the pediatric population of TPN-dependent children. Because there is no shortage of intravenous thiamine, it should be administered with TPN even if MVI is not available.
View details for Web of Science ID 000071331400026
View details for PubMedID 9417174
REPORT OF THE DIAGNOSTIC-CRITERIA COMMITTEE OF THE NATIONAL-TUBEROUS-SCLEROSIS-ASSOCIATION
JOURNAL OF CHILD NEUROLOGY
1992; 7 (2): 221-224
View details for Web of Science ID A1992HM08300019
Congenital hypertrophy of the retinal pigment epithelium predicts colorectal polyposis in Gardner's syndrome.
Archives of ophthalmology (Chicago, Ill. : 1960)
1990; 108 (4): 525–26
We studied prospectively the utility of congenital hypertrophy of the retinal pigment epithelium as a predictor of colonic polyposis in offspring of patients with familial adenomatous polyposis with extracolonic manifestations (Gardner's syndrome). After they underwent initial indirect ophthalmoscopy, we followed up 34 individuals at 50% genetic risk for familial adenomatous polyposis with extracolonic manifestations due to an affected parent. All 34 obtained their first colorectal endoscopic examination during a follow-up period of up to 4 years. The 16 individuals who did not have congenital hypertrophy of the retinal pigment epithelium (aged 13 to 40 years; mean, 25 years) remained polyp free, while 14 of 18 individuals with congenital hypertrophy of the retinal pigment epithelium (aged 9 to 30 years; mean, 18 years) were found to have colorectal adenomatous polyposis. Our findings indicate that the presence of multiple patches of congenital hypertrophy of the retinal pigment epithelium in children and young adults at risk for familial adenomatous polyposis with extracolonic manifestations is a clinically useful predictor of colorectal polyposis.
View details for DOI 10.1001/archopht.1990.01070060073052
View details for PubMedID 2157384
Assignment of the Nance-Horan syndrome to the distal short arm of the X chromosome.
1990; 86 (1): 54–58
There are three types of X-linked cataracts recorded in Mendelian Inheritance in Man (McKusick 1988): congenital total, with posterior sutural opacities in heterozygotes; congenital, with microcornea or slight microphthalmia; and the cataract-dental syndrome or Nance-Horan (NH) syndrome. To identify a DNA marker close to the gene responsible for the NH syndrome, linkage analysis on 36 members in a three-generation pedigree including seven affected males and nine carrier females was performed using 31 DNA markers. A LOD score of 1.662 at theta = 0.16 was obtained with probe 782 from locus DXS85 on Xp22.2-p22.3. Negative LOD scores were found at six loci on the short arm, one distal to DXS85, five proximal, and six probes spanning the long arm were highly negative. These results make the assignment of the locus for NH to the distal end of the short arm of the X chromosome likely.
View details for DOI 10.1007/BF00205172
View details for PubMedID 1979306
- Corneal tyrosine crystals in transient neonatal tyrosinemia. The Journal of pediatrics 1988; 113 (1 Pt 1): 91–93
Inferior oblique inclusion after lateral rectus surgery.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
1988; 226 (2): 102–5
A retrospective and prospective study evaluated the clinical characteristics of patients with inadvertent incorporation of the inferior oblique muscle to the lateral rectus muscle after lateral rectus surgery. Nineteen cases were included in the study (12 retrospectively in the preceding 18 months and 7 during the prospective 5-month period). Thirteen cases with the inferior oblique inclusion occurred after a lateral rectus resection and 6 occurred after a lateral rectus recession. Most patients demonstrated a vertical deviation in the affected eye preoperatively. Nine had hypotropia and 8 had hypertropia. Deficient elevation in adduction in all patients was found on motility testing. After reoperation, despite freeing the inferior oblique from the lateral rectus, most patients had a persistent vertical deviation. Inadvertent inferior oblique inclusion can be avoided by inspecting the under surface of the lateral rectus and freeing any inferior oblique attachment before reattaching the lateral rectus to the globe during either resection or recession.
View details for DOI 10.1007/BF02173291
View details for PubMedID 3360331
- Transient hypoxemia from a transient right-to-left shunt in a child during emergence from anesthesia. Anesthesiology 1987; 66 (2): 234–35