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. 2020 Aug 11;184(3):762–772. doi: 10.1002/ajmg.c.31824

FIGURE 2.

FIGURE 2

Representation of genes and variant subtypes associated with inherited eye disease in the molecularly confirmed 56 families. (a) Disease‐causative genes in this UAE cohort, the most common is ABCA4. Where a gene was identified in only one family from the entire cohort, it was placed in the “Other” group. Mutated variant(s) were found in this gene but the clinical diagnosis remains unconfirmed. (b) Types of variant identified within our cohort of families