Progressive cone dystrophy

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Progressive cone dystrophy

ORPHA:1871Disease

Also called Cone dystrophy

What it is

A rare retinal dystrophy characterized by photophobia, progressive loss of visual acuity, nystagmus, visual field abnormalities, abnormal color vision, and psychophysical and electrophysiological evidence of abnormal cone function. Progressive cone dystrophy usually presents in childhood or early adult life, and patients tend to develop rod photoreceptor dysfunction in later life.

Key facts

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

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Genes

CNGB3Disease-causing germline mutation(s)
GNAT2Disease-causing germline mutation(s)
GUCA1ADisease-causing germline mutation(s)
PDE6CDisease-causing germline mutation(s)

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

GARD 11897MEDDRA 10083940MONDO 455OMIM 180020OMIM 300085OMIM 304030OMIM 602093OMIM 613093UMLS C3665342

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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