High Hyperopia in Leber's Congenital Amaurosis

Spectrum of Disease Severity in Nonsyndromic Patients With Mutations in the CEP290 Gene: A Multicentric Longitudinal Study

“… 25 , 26 , 43 The most common sign at disease onset was nystagmus or roving eye movements and the most frequent refractive error was hyperopia. The prevalence of these clinical features, typically associated with LCA, 44 – 46 was consistent with the high proportion of patients with LCA in our cohort.…”

Spectrum of Disease Severity in Nonsyndromic Patients With Mutations in the CEP290 Gene: A Multicentric Longitudinal Study

“… 25 , 26 , 43 The most common sign at disease onset was nystagmus or roving eye movements and the most frequent refractive error was hyperopia. The prevalence of these clinical features, typically associated with LCA, 44 – 46 was consistent with the high proportion of patients with LCA in our cohort.…”

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.…”

Spectrum of Disease Severity in Nonsyndromic Patients With Mutations in the CEP290 Gene: A Multicentric Longitudinal Study

“… 25 , 26 , 43 The most common sign at disease onset was nystagmus or roving eye movements and the most frequent refractive error was hyperopia. The prevalence of these clinical features, typically associated with LCA, 44 – 46 was consistent with the high proportion of patients with LCA in our cohort.…”

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.…”

Spectrum of Disease Severity in Nonsyndromic Patients With Mutations in the CEP290 Gene: A Multicentric Longitudinal Study

“… 25 , 26 , 43 The most common sign at disease onset was nystagmus or roving eye movements and the most frequent refractive error was hyperopia. The prevalence of these clinical features, typically associated with LCA, 44 – 46 was consistent with the high proportion of patients with LCA in our cohort.…”

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.…”