PURPOSE: To report the relative risk for aphakic glaucoma as a function of age at surgery in infants who underwent cataract surgery before 10 months of age for nontraumatic infantile cataract without microcornea.

METHODS: This was an institutional retrospective case series (January 1985 to February 2003) of children who underwent cataract surgery without intraocular lens implantation for nontraumatic infantile cataract before 10 months of age. Patients with less than 5 years' ...

PURPOSE: To explore the relationships among cycloplegic refraction, keratometry, and axial length in children with refractive accommodative esotropia and to evaluate the feasibility of axial length estimation from the other 2 parameters.

METHODS: This is a prospective case series of children ages 4-12 years who were diagnosed with refractive accommodative esotropia, cooperative for keratometry and optical biometry by the IOLMaster, and without amblyopia in the right eye. The right eyes ...

IMPORTANCE: Infantile cataract surgery bears a significant risk for postoperative glaucoma, and no consensus exists on factors that may reduce this risk.

OBJECTIVE: To assess the effect of primary intraocular lens implantation and timing of surgery on the incidence of postoperative glaucoma.

DATA SOURCES: We searched multiple databases to July 14, 2013, to identify studies with eligible patients, including PubMed, MEDLINE, EMBASE, ISI Web of Science, Scopus, Central, Google Scholar, ...

AIM: To report complications and 2-year valve survival following Ahmed valve implantation during the first 2 years of life.

METHODS: Retrospective institutional case series.

RESULTS: Forty-two eyes of 36 patients with Ahmed valve implantation (without prior drainage device surgery) during the first 2 years of life and 2 years' postsurgical follow-up were identified. Most eyes had primary congenital glaucoma (28/42, 66.7%), aphakic glaucoma (5/42, 11.9%) or Peters anomaly (5/42, 11.9%). ...

Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are major causes of blindness. They result from mutations in many genes which has long hampered comprehensive genetic analysis. Recently, targeted next-generation sequencing (NGS) has proven useful to overcome this limitation. To uncover "hidden mutations" such as copy number variations (CNVs) and mutations in non-coding regions, we extended the use of NGS data by quantitative readout for the exons of 55 RP and LCA genes in ...

PURPOSE: This study was initiated to identify causal mutations responsible for autosomal recessive congenital cataracts in consanguineous familial cases.

METHODS: Affected individuals underwent a detailed ophthalmological and clinical examination, and slit-lamp photographs were ascertained for affected individuals who have not yet been operated for the removal of the cataractous lens. Blood samples were obtained, and genomic DNA was extracted from white blood cells. A genome-wide scan ...

PURPOSE: FOXC1 mutations result in Axenfeld-Rieger syndrome, a disorder characterized by a broad spectrum of malformations of the anterior segment of the eye and an elevated risk for glaucoma. A novel FOXC1 W152G mutation was identified in a patient with aniridia. Molecular analysis was conducted to determine the functional consequences of the FOXC1 W152G mutation.

METHODS: Site-directed mutagenesis was used to introduce the W152G mutation into the FOXC1 complementary DNA. The levels of ...

PURPOSE: Brittle cornea syndrome 1 (BCS1) is a rare recessive condition characterized by extreme thinning of the cornea and sclera, caused by mutations in ZNF469. Keratoconus is a relatively common disease characterized by progressive thinning and ectasia of the cornea. The etiology of keratoconus is complex and not yet understood, but rare ZNF469 variants have recently been associated with disease. We investigated the phenotype of BCS1 carriers with known pathogenic ZNF469 mutations, ...

PURPOSE OF REVIEW: To provide an overview of the genetics of the primary open-angle glaucomas with particular attention to congenital, infantile, and juvenile forms.

RECENT FINDINGS: Mutations in CYP1B1, in addition to being the most common identifiable cause of autosomal recessive primary congenital/infantile glaucoma, can infrequently underlie juvenile and even primary adult-onset open-angle glaucoma, particularly in certain consanguineous populations. In 2009, patients diagnosed with ...

Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by hypotonia, ataxia, abnormal eye movements, and variable cognitive impairment. It is defined by a distinctive brain malformation known as the "molar tooth sign" on axial MRI. Subsets of affected individuals have malformations such as coloboma, polydactyly, and encephalocele, as well as progressive retinal dystrophy, fibrocystic kidney disease, and liver fibrosis. More than 35 genes have been associated with ...

PURPOSE: To evaluate the effect of intraoperative mitomycin-C (MMC) on polypropylene Ahmed glaucoma valve (AGV) survival 2 years after implantation during the first 2 years of life.

DESIGN: Retrospective institutional comparative series (1995-2005).

PARTICIPANTS: Thirty-one eyes of 27 patients (23 unilateral, 4 bilateral; 16 boys, 11 girls) undergoing AGV implantation at a mean age of 11.1 months (standard deviation [SD], 5.46), all of which had 2 years of regular postoperative ...

We have previously described a syndrome characterized by facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs (FDLAB, or Traboulsi syndrome). In view of the consanguineous nature of the affected families and the likely autosomal-recessive inheritance pattern of this syndrome, we undertook autozygosity mapping and whole-exome sequencing to identify ASPH as the disease locus, in which we identified two homozygous mutations. ASPH encodes ...

PURPOSE: To report the genetic basis for congenital glaucoma with clinical aniridia in an infant and a milder phenotype in her mother.

METHODS: Prospective case series.

RESULTS: An infant girl with almost complete lack of iris tissue was referred and treated for congenital glaucoma. Although the presumed clinical diagnosis was aniridia (On-line Mendelian Inheritance in Man [OMIM] AN2, # 106210), PAX6 sequencing was normal. Examination of the infant's mother was significant for ...

BACKGROUND: Knobloch syndrome is defined as a triad of occipital defect, high myopia and vitreo-retinal degeneration (often with later retinal detachment); however, the ocular phenotype is not well defined. This report characterises eye findings of the syndrome in children with genetically confirmed disease.

METHODS: Case series of Saudi children with previously documented homozygous mutations in COL18A1 or ADAMTS18.

RESULTS: All eight children (4-15 years old; five families) had smooth ...

PURPOSE: To determine the genetic basis for congenital total white cataract with microcornea in three affected siblings.

DESIGN: Prospective interventional case series.

METHODS: Clinical ophthalmic examination, venous blood sampling for linkage analyses, and diagnostic testing of identified candidate gene(s).

RESULTS: Three siblings had congenital total white cataract with microcornea; the parents and seven other siblings were asymptomatic. Linkage analysis mapped the phenotype to Hsa ...