Congenital Corneal Staphyloma: A Comprehensive Histopathologic Assessment Including Associated Anterior Segment Abnormalities.

Congenital corneal staphyloma is a rare congenital malformation with guarded visual potential. The cornea is opaque, markedly ectatic, and lined by uveal tissue with a variety of associated anterior segment abnormalities. In this case report, the detailed histopathology of this condition is highlighted with an unusual finding of the malformed lens. [J Pediatr Ophthalmol Strabismus. 2024;61(3):e28-e32.].

Requirements for optical services in children with microphthalmos, coloboma and microcornea in southern India.

PURPOSE: The aim of the study was (1) to determine the need for spectacles in children in Southern India with coloboma, microphthalmos and microcornea, (2) to describe their refractive errors and (3) to assess their needs for low vision aids (LVAs). METHODS: Children with congenital eye anomalies were recruited from special education for the blind, schools for the mentally handicapped, community-based rehabilitation programmes and hospital records in Andhra Pradesh, India. All those with at least light perception vision (PL) in one eye and who had navigational vision were refracted. Those whose distance vision in their better eye improved with refraction were prescribed spectacles. Those unable to read N10 were assessed for LVAs for near. Those with distance visual acuity of < 6/18 in the better eye were assessed for telescopes to aid distance vision. RESULTS: Ninety-nine children with coloboma, microcornea or microphthalmos had functional vision. Eight unilateral cases were excluded. Ninety-one bilateral cases were refracted and assessed for LVAs. The vision in 52 children (57%) improved in the better-seeing eye by 1 or more lines of Snellen acuity with spectacles. Spectacles were prescribed most frequently for myopia associated with choroidal coloboma. After refraction, all 19 children with a visual acuity of 6/18 or better could read N10, and 43 of the 72 children (60%) with a visual acuity of < 6/18 to PL with functional vision could read N10 unaided, or with distance correction. A further 6 (8%) reached this level with magnifiers. Thirteen children (18%) were given telescopes. CONCLUSION: Children with congenital anomalies of the eye and functional vision benefit from refraction and low vision services.

Mental retardation in Nance-Horan syndrome: clinical and neuropsychological assessment in four families.

Nance-Horan syndrome (NHS) is a rare X-linked condition comprising congenital cataract with microcornea, distinctive dental, and evocative facial anomalies. Intellectual handicap was mentioned in seven published NHS patients. We performed a clinical study focused on psychomotor development, intellectual abilities, and behavior in 13 affected males in four NHS families, and present the results of a neuropsychological evaluation in 7 of them. Our study confirms that mental retardation (MR) can be a major component of the NHS. Combining our data with those from the literature leads to a frequency of MR in NHS of around 30%. In most cases, MR is mild or moderate (80%) and not associated with motor delay. Conversely, a profound mental handicap associated with autistic traits may be observed. MR has intra- and inter-familial variability but does not appear to be expressed in carriers. Awareness of MR in NHS may be of importance in the management of the patients, especially in terms of education. Cloning and characterization of the gene and analysis of mutations will be an important step towards understanding the molecular basis of mental deficiency in NHS, and in delineation from the other XLMR conditions at Xp22.