Peculiar Clinical Findings in Young Choroideremia Patients: A Retrospective Case Review.
PURPOSE
To report peculiar clinical findings in young choroideremia (CHM) patients.


METHODS
We retrospectively reviewed young (age <20 years at the first evaluation) CHM patients examined at the Regional Reference Center for Hereditary Retinal Degenerations at the Eye Clinic in Florence between 2012 and 2018. We took into consideration patients with ophthalmological examinations, fundus color photographs, fundus autofluorescence (FAF) images, optical coherence tomography (OCT) scans, full-field electroretinograms, and Goldmann visual fields.


RESULTS
In our series, we studied 8 young CHM patients (average age 13.8 years, median age 12.5, range 10-20) for a total of 16 eyes. Visual acuity (VA) was 20/20 in 7 patients and 20/25 in both eyes of 1 patient. We identified a peculiar central FAF pattern (detectable in 3 patients), characterized by reduced central hypo-autofluorescence. Long OCT scans showed different forms of parapapillary retinal involvement from the mildest to the most severe form when the macula is still preserved. In 3 patients, at the time of atrophic changes at the posterior pole, it was possible to detect a progressive reduction of foveal pigmentation during follow-up. We found mutations of the CHM gene in all 6 patients who had been screened.


CONCLUSIONS
CHM is a progressive retinal disorder which involves both the peripheral and the central retina. Using a multimodal imaging approach, we described peculiar central abnormalities underlying the early involvement of the central retina in young CHM patients with a good VA.
['Mucciolo|Dario Pasquale|DP|', 'Murro|Vittoria|V|', 'Sodi|Andrea|A|', 'Passerini|Ilaria|I|', 'Giorgio|Dario|D|', 'Virgili|Gianni|G|', 'Rizzo|Stanislao|S|']
D000293:Adolescent D002648:Child D015794:Choroideremia D004596:Electroretinography D005260:Female D005451:Fluorescein Angiography D005654:Fundus Oculi D020022:Genetic Predisposition to Disease D006801:Humans D008297:Male D009887:Ophthalmoscopy D010375:Pedigree D010641:Phenotype D012160:Retina D012189:Retrospective Studies D041623:Tomography, Optical Coherence D014792:Visual Acuity D055815:Young Adult
Choroideremia Fundus autofluorescence Retinal dystrophy Young age