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Ellipsoid Zone Loss as an Outcome Measure in MAK-Associated Retinitis Pigmentosa
Maximilian D Kong1, Johnathan A Bailey2, Abdhel Exinor3
1From the Jonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory (M.K., J.B., A.E., N.H., B.H., C.P., A.D., J.S., S.T.), Inst of Human Nutrition, Columbia Stem Cell Initiative, New York, New York, USA; Columbia University Irving Medical Center (M.K., J.B., S.B.), Edward S. Harkness Eye Institute, New York-Presbyterian Hospital, New York, New York, USA; State University of New York at Downstate Medical Center (M.K.), Brooklyn, New York, USA.
MAK-associated retinitis pigmentosa (MAK-RP) patients retain good vision, but show significant ellipsoid zone and outer nuclear layer thinning. Fundus autofluorescence reveals characteristic changes over time, suggesting alternative progression markers are needed.
Area of Science:
- Ophthalmology
- Genetics
- Retinal Diseases
Background:
- MAK-associated retinitis pigmentosa (MAK-RP) is a rare genetic disorder affecting vision.
- Understanding its natural history is crucial for patient management and therapeutic development.
Purpose of the Study:
- To analyze the clinical characteristics of MAK-RP.
- To outline the natural history and identify outcome measurements for MAK-RP.
Main Methods:
- Retrospective case series of 18 individuals with pathogenic MAK gene mutations and retinitis pigmentosa.
- Evaluations included fundus autofluorescence (FAF), spectral-domain optical coherence tomography (SD-OCT), ffERG, and visual field testing.
- Progression rates of the ellipsoid zone (EZ) and outer nuclear layer (ONL) were measured.
Main Results:
- Patients maintained good visual acuity (median BCVA 20/25).
- Significant annual decline in EZ width (209.78 µm/year) and ONL thickness (1.24 µm/year) was observed.
- FAF showed an evolving hyperautofluorescent ring, progressing to an ellipsoid around the macula by the fifth decade.
Conclusions:
- MAK-RP patients generally maintain functional central vision with a favorable prognosis.
- FAF and OCT reveal significant structural changes, highlighting the need for alternative progression markers.
- Statistically significant reductions in EZ width and ONL thickness were identified.
