Fundus albipunctatus

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Fundus albipunctatus

ORPHA:227796Disease

What it is

Fundus albipunctatus is a rare, genetic retinal dystrophy disorder characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age.

Key facts

Age of onset
Childhood
Inheritance
Autosomal dominant, Autosomal recessive
Classified as
Disease

Genes

RDH5Disease-causing germline mutation(s)
RLBP1Disease-causing germline mutation(s)
PRPH2Candidate gene tested

ICD-10 codes

H35.5filed under a broader ICD-10 category — shared with 49 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

MESH C562733MONDO 0007639OMIM 136880UMLS C0311338

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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