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Retinitis punctata albescens
1 OMIM reference -
4 associated genes
25 connected diseases
No signs/symptoms info
Disease Type of connection
Retinitis pigmentosa
Fundus albipunctatus
Congenital stationary night blindness
Bothnia retinal dystrophy
Adult-onset foveomacular vitelliform dystrophy
Butterfly-shaped pigment dystrophy
Central areolar choroidal dystrophy
Cone rod dystrophy
Oguchi disease
Amyotrophic lateral sclerosis
Young adult-onset distal hereditary motor neuropathy
Adult-onset distal myopathy due to VCP mutation
Behavioral variant of frontotemporal dementia
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Spastic paraplegia - Paget disease of bone
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Diseases of the eye and adnexa -
Epidemiological data:
Class of prevalence: -
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
PRPH2 P23942179605
RDH5 Q92781601617
RHO P08100180380
RLBP1 P12271180090
No signs/symptoms info available.