Aniridia and optic nerve hypoplasia

Abstract

Background This study evaluates, in patients with aniridia, the prevalence of optic nerve hypoplasia and its association with foveal hypoplasia. Methods The medical records of 56 patients with aniridia (31 female, 25 male, mean age 33 years, range 2-74 years) were retrospectively evaluated for optic nerve and foveal hypoplasia. The difference in prevalence of foveal hypoplasia in patients with and without optic nerve hypoplasia was compared using Fisher's exact test. Results Six of 56 patients, 10.7% (95% CI: 4.8-21.5%), had optic nerve hypoplasia; hypoplasia was found in both eyes of five binocular patients and in one monocular patient. The prevalence of foveal hypoplasia was higher in aniridia patients with optic nerve hypoplasia than in those without (50.0 vs 6.0%); this difference did not achieve statistical significance (P ¼ 0.10). Conclusions Clinically apparent optic nerve hypoplasia is found in roughly 10% of patients with aniridia and may occur independently or in association with foveal hypoplasia.

Novel and De-novo TruncatingPAX6Mutations and Ocular Phenotypes in Thai Aniridia Patients

“…Although optic nerve hypoplasia has been reported in association with aniridia, 19 we did not find optic nerve hypoplasia or other types of optic disc anomalies. Moreover, we found no CNS malformation and mental retardation in our patients.…”

Aniridia

“…2,7 Optic nerve Optic nerve hypoplasia (small, malformed optic nerve) occurs in up to 10% of cases; optic nerve colobomata are also seen occasionally. 7,8 Refractive error, strabismus and ptosis Myopia, hypermetropia, astigmatism, as well as squints are commonly seen in aniridics. 5,7,11 Up to 10% of patients may have ptosis (drooping eyelid).…”

“…Later onset cataracts, glaucoma and corneal opacification are responsible for progressive visual failure ( Figure 1). 1,2,[5][6][7][8][9] The phenotype can vary between and within families, but affected individuals usually show little difference between the two eyes. Most cases present within six weeks of birth with an obvious iris or pupillary abnormality or nystagmus.…”

Structural Grading of Foveal Hypoplasia Using Spectral-Domain Optical Coherence Tomography

“…This has introduced various terminologies such as fovea plana, foveal dysgenesis and foveal aplasia to describe the structural variability associated with arrested development of the fovea. [6][7][8] Mietz and colleagues suggested that foveal hypoplasia is a more appropriate terminology rather than aplasia since hypoplasia encompasses both the partial and complete absence of a structure. 9 Recent studies have shown that OCT can be used as a diagnostic aid and prognostic indicator for the foveal hypoplasia.…”