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Midperipheral mottling pigmentation with familial choroidal osteoma
Takashi Tsuchihashi1, Koichiro Murayama, Tamiya Saito
1Department of Ophthalmology, Saitama Medical School, Japan.
Retina (Philadelphia, Pa.)
|January 19, 2005
Summary
Familial choroidal osteoma, a rare condition, presents unique midperipheral pigment changes in siblings, differing from sporadic cases. These findings suggest distinct genetic or environmental factors may influence its development.
Area of Science:
- Ophthalmology
- Genetics
- Medical Imaging
Background:
- Familial choroidal osteoma is a rare condition.
- Understanding its unique presentations is crucial for diagnosis and management.
Observation:
- Two brothers presented with bilateral choroidal osteomas.
- Clinical examination revealed bilateral peripapillary yellowish-white lesions and midperipheral mottling pigment appearance.
- Fluorescein angiography (FA) showed extensive midperipheral mottling pigment as scattered hyperfluorescent dots.
- Indocyanine green angiography (ICG) revealed abnormal choroidal vessels within the tumors.
Findings:
- Familial cases exhibited unique midperipheral mottling pigment, not typically seen in sporadic choroidal osteomas.
- Yellowish-white lesions demonstrated diffuse hyperfluorescence on FA and hypofluorescence on ICG.
- One patient developed subretinal fibrosis and visual deterioration due to choroidal neovascularization.
Implications:
- The distinct presentation suggests separate etiologic or modified factors in familial choroidal osteoma.
- Further research into genetic and environmental influences is warranted.
- This highlights the importance of considering genetic predisposition in choroidal osteoma cases.