Researchers reported a case of an unusual focal choroidal excavation (FCE) with a macular hole in a patient with Alagille syndrome (ALGS). The case report noted that FCE is a relatively new disease entity with an unknown origin that has been increasingly reported in other retinochoroidal pathologies, but this is the first known case in association with ALGS.
“Although it is uncertain whether the development of FCE with a macular hole was consequential or coincidental, we speculate that in this patient, chorioretinal atrophy produced damage at the level of photoreceptors, the retinal pigment epithelium, and choriocapillaris, and then, the macular hole formed through the above mechanisms,” the authors wrote in Case Reports in Ophthalmological Medicine.
The case was that of a 21-year-old woman diagnosed with ALGS early in life. Prior to liver transplantation, she was referred for ophthalmological examination, which revealed posterior embryotoxon in both eyes, diffuse choroidal hypopigmentation, and bilateral circumferential chorioretinal atrophy.
In addition, a full-thickness macular hole with underlying FCE was identified in her right eye and was confirmed by optical coherence tomography.
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There have been very few published cases of FCE with a full-thickness macular hole, and its etiology remains undetermined. In another published case of advanced retinitis pigmentosa with FCE, the authors speculated that retinitis pigmentosa could have led to inflammation, resulting in atrophy and excavation due to disruption of the choroidal stroma.
To better understand the possible etiology of rare cases such as this, the research team recommends the observation of fellow eyes with chorioretinal atrophy and multimodal ophthalmological imaging for all patients with ALGS.
Misawa M, Tampo H, Makino S. Atypical focal choroidal excavation with macular hole in a patient with Alagille syndrome. Case Rep Ophthalmol Med. 2022;2022:8136115. doi:10.1155/2022/8136115