If left, these polyps will invariably transform, through the adenoma-carcinoma sequence, to colorectal malignancy. Patients develop multiple adenomatous polyps in the colon varying from a hundred to thousands in number. Arana, Doheny Eye Institute, 1450 San Pablo St, Ste 100, Los Angeles, CA 90033 ( for Publication: Janufinal revision received Apaccepted April 30, 2010.Familial adenomatous polyposis (FAP) is a genetic disorder transmitted in an autosomal dominant pattern.
Because this is the first report of CGARPES in more than a single family member, we believe the appropriate name for this unique presentation is familial congenital grouped albinotic retinal pigment epithelial spots.Ĭorrespondence: Dr L. However, because only 2 generations were analyzed, the pattern is also consistent with autosomal recessive, X-linked dominant, digenic, or mitochondrial inheritance. The hereditary pattern in the presently described family is most likely an autosomal dominant form of the disease since only the mother and 3 daughters present with the unusual fundus. In contrast to previous studies that found this entity to be sporadic, we found an obvious familial component in our cases. Gass 2 recognized that CGAREPS is identical to the entity reported by Kandori and colleagues, 5 sometimes referred to as the flecked retina of Kandori. 1, 2, 4 The differential diagnosis of CGAREPS includes fundus flavimaculatus, fundus albipunctatus, and familial drusen.
This finding is well documented in previous articles. Histologic findings have not been reported so far to clarify the true composition of this material.įluorescein angiography showed hyperfluorescent spots with the initial phase of the angiogram (window defect) correlating exactly with the lesions observed in the ocular fundus. Like in all reports of CGARPES, the lesions vary in size and configuration however, we believe there is a color pattern: larger lesions tend to have heterogeneous coloration between the edge and the central part smaller lesions tend to be more homogeneous.Īccording to Gass, 2 the spots may represent focal thickening of the retinal pigment epithelium that is filled with a white material that may be diffusely distributed or more concentrated in the periphery of the lesion. We hypothesize that yellow macular lesions could be explained by the increased amount of xanthophyll in these areas compared with the periphery, where the spots are white. 1, 2 On the other hand, our and more recent articles 3, 4 found those spots to be bilateral, affecting the macula and present with some yellow lesions, particularly in the posterior pole area. However, the lesions in original reports of CGARPES tended to be white, spare the macula, and uniocular. The 4 cases were characterized by bilateral, multiple, deeply situated, white-yellow fleck lesions with a panretinal distribution (fovea, posterior pole, peripapillary, equator, and periphery). The retinal condition in the patients described in our article is compatible and consistent with a diagnosis of congenital grouped retinal pigment epithelial spots. No intraretinal fluid was seen during the late phase of the angiogram ( Figure 1). The arterial phase revealed a transmitted hyperfluorescent lesion (a window defect of the retinal pigment epithelium) that corresponded to the lesions seen during the ophthalmic examination. Fluorescein angiography showed a normal choroidal and retinal vascular perfusion. The size of the flecks was highly variable, from the diameter of one vessel to 4 times the diameter of the optic nerve but the flecks had a consistent color pattern: in the smaller lesions, the color was more homogeneous, and in the larger lesions, it was concentrated at the edge of the flecks ( Figure 1). Funduscopy of both eyes revealed multiple white and sometimes yellow flecks of variable size and configuration affecting all parts of the retina (periphery, equator, posterior pole, and fovea) ( Figure 1). Slitlamp examination of the anterior segments and vitreous cavity was unremarkable. Visual acuity was 20/20 in both eyes with −0.50 cylinder correction in the left eye. She had occasional headaches but no specific ocular symptoms, and she was in excellent general health.
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