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Quantification of Vascular Parameters in Whole Mount Retinas of Mice with Non-Proliferative and Proliferative Retinopathies
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Longitudinal Multimodal Assessment of Structure and Function in INPP5E-Related Retinopathy
Andrea Cusumano1,2, Marco Lombardo2, Benedetto Falsini3
1Macula & Genoma Foundation, 00196 Rome, Italy.
Genes
|December 30, 2025
Summary
INPP5E-related retinopathy shows progressive retinal structural decline over six years. Ellipsoid zone width and inner nuclear layer thickness are key indicators for tracking disease progression in INPP5E-RR.
Area of Science:
- Ophthalmology
- Genetics
- Retinal Diseases
Background:
- INPP5E-related retinopathy (INPP5E-RR) is a rare genetic disorder stemming from pathogenic variants in the INPP5E gene.
- Early-onset rod-cone dystrophy is characteristic, but detailed longitudinal phenotypic data are limited.

