Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay.

Background: Leber congenital amaurosis (LCA) is a severe infantile retinal dystrophy that is non-syndromic other than neurodevelopmental delay, reported in up to 20% of cases according to one older study. The phenotype is typically autosomal recessive and is genetically heterogeneous. Although LCA is defined by a non-recordable electroretinogram (ERG) during infancy, many LCA studies include infants with low ERG readings and/or older children not phenotyped during infancy.

Update of intraocular lens implantation in children.

Cataract is a common problem that affects the vision in children and a major cause of amblyopia in children. However, the management of childhood cataract is tenuous and requires special considerations especially with regard to intraocular lens (IOL) implantation. Age at which an IOL can be implanted is a controversial issue.

Primary and secondary congenital glaucoma: baseline features from a registry at King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.

Purpose: To compare the demographic and clinical distribution of primary and secondary congenital glaucoma from a registry at King Khaled Eye Specialist Hospital.

Design: Registry-based cohort study.

Methods: Review of registry data that included new patients with congenital glaucoma seen between 2001 and 2003 (29 months); analysis of the demographic data and clinical features of primary and secondary congenital glaucoma at presentation.

Ocular manifestations of branchio-oculo-facial syndrome: report of a novel mutation and review of the literature.

Purpose: To report unusual ocular manifestations of branchio-oculo-facial syndrome (BOFS) caused by a novel mutation in activating enhancer binding protein 2 alpha (TFAP2A).

Methods: Full ophthalmological evaluation and direct sequencing of TFAP2A.

Results: A 10-year-old girl with unusual ocular manifestations of BOFS such as elliptical shaped microcornea and a novel de novo TFAP2A mutation was identified.

Familial ptotic lid elevation during ipsilateral abduction.

Purpose: To report and discuss the clinical findings of a 17-member family with 2 siblings who exhibit ptosis and abnormal synkinetic lid elevation associated with ipsilateral abduction.

Subjects And Methods: Sixteen members of the 17-member immediate family underwent ophthalmic examination.

Results: Two siblings exhibited ptosis and abnormal synkinetic lid elevation associated with ipsilateral abduction.

Large-segment superior oblique tendon expanders in the management of severe congenital Brown syndrome.

Purpose: To report the effectiveness of large-segment superior oblique tendon expanders for severe congenital Brown syndrome.

Methods: Medical records of 12 consecutive patients with severe congenital Brown syndrome were evaluated retrospectively. All patients had a hypotropia > 20 prism diopters in primary position.

Results of surgery for bilateral cataract associated with sensory nystagmus in children.

Purpose: To report the outcome of cataract surgery in children with bilateral cataract and preoperative sensory nystagmus.

Design: Interventional case series.

Methods: Retrospective review of 95 children who underwent surgery for bilateral cataract associated with sensory nystagmus.