Included titles and symbols : Retinitis pigmentosa 94, variable age at onset; RP94;
Description : Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group
of disorders affecting rod and cone photoreceptors simultaneously. The most severe
cases are termed Leber congenital amaurosis, whereas the less aggressive forms are
usually considered juvenile retinitis pigmentosa (Gu et al., 1997). Mackay et al.
(2011) concluded that SPATA7 retinopathy is an infantile-onset severe cone-rod dystrophy
with early extensive peripheral retinal atrophy but with variable foveal involvement.
For a general phenotypic description and a discussion of genetic heterogeneity of
Leber congenital amaurosis, see LCA1 (204000); for retinitis pigmentosa, see 268000.;