Midperipheral mottling pigmentation with familial choroidal osteoma.
OBJECTIVE
To describe a rare presentation of familial choroidal osteoma in two siblings.


METHODS
The clinical findings in two siblings over 4 years' follow-up.


RESULTS
Two brothers (15 and 12 years old) had bilateral choroidal osteomas. Both had bilateral peripapillary yellowish-white lesions and midperipheral mottling pigment appearance, which are not seen in sporadic cases. Extensive midperipheral area with mottling pigment appearance was noted by fluorescein angiography (FA) as scattered multiple hyperfluorescent dots. The yellowish-white lesions showed diffuse hyperfluorescence with FA and hypofluorescence with indocyanine green angiography (ICG). ICG also revealed irregular hyperfluorescent areas within the tumor, indicating abnormal choroidal vessels on the tumor. In the left eye of the younger brother, the subretinal fibrosis due to choroidal neovascularization superior to the macula extended down toward the foveal region over 2 years, resulting in visual deterioration.


CONCLUSIONS
The midperipheral mottling pigment appearance of familial choroidal osteoma cases is unique and different from most sporadic cases, suggesting that familial choroidal osteoma might have separate etiologic or modified factors.
Tsuchihashi
Takashi
T
Department of Ophthalmology, Saitama Medical School, Japan.
Murayama
Koichiro
K
Saito
Tamiya
T
Ebisawa
Nobusuke
N
Yoneya
Shin
S
D000293:Adolescent; D001859:Bone Neoplasms / Q000235:genetics / Q000473:pathology*; D002648:Child; D002830:Choroid Neoplasms / Q000235:genetics / Q000473:pathology*; D020256:Choroidal Neovascularization / Q000473:pathology*; D005355:Fibrosis; D005451:Fluorescein Angiography; D006801:Humans; D007208:Indocyanine Green; D008297:Male; D010016:Osteoma / Q000235:genetics / Q000473:pathology*; D012160:Retina / Q000473:pathology; D012174:Retinitis Pigmentosa / Q000473:pathology*; D014057:Tomography, X-Ray Computed
D007208:Indocyanine Green