High Hyperopia in Leber's Congenital Amaurosis

The epidemiology of retinitis pigmentosa in Denmark

“…The same author refers to Foxman et al. (1985) and to Wagner et al. (1985); who both found hypermetropia more common among nonsystemic cases of Leber's congenital amaurosis than among systemic cases.…”

Inherited Retinal Degenerations

“…17 High hyperopia is also a common finding in LCA patients. 18 ERG testing shows an absence of both rod and cone responses, essentially producing a flat ERG waveform. 4 Affected children may exhibit the oculodigital sign of Franceschetti, or eye poking and rubbing, that is believed to mechanically trigger light perception from the intact visual cortex.…”

Molecular genetics of infantile-onset retinal dystrophies

“…57,58 The pupils react sluggishly to light and, although the fundus appearance is often normal, abnormal retinal changes including peripheral white dots at the RPE level, macular atrophy, retinal pigmentation, and vascular attenuation may be seen. Other findings include the oculodigital sign, microphthalmos, enophthalmos, strabismus, keratoconus, 59 high refractive error, 60 cataract, and optic disc swelling.…”