Juvenile glaucoma

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Juvenile glaucoma

ORPHA:98977Disease

What it is

A rare primary early-onset glaucoma characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment.

Key facts

Prevalence
1-9 / 100 000 (United States)
Age of onset
Adolescent, Childhood
Inheritance
Autosomal dominant
Classified as
Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

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

CYP1B1Major susceptibility factor
EFEMP1Disease-causing germline mutation(s)
MYOCDisease-causing germline mutation(s)

ICD-10 codes

H40.1filed under a broader ICD-10 category — shared with 1 other rare disease

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

MEDDRA 10064032MONDO 0020367OMIM 137750OMIM 231300OMIM 608695OMIM 608696OMIM 610535OMIM 611274UMLS C2981140

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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