Familial cavernous hemangioma: An expanding ocular spectrum.

OBJECTIVE: To describe the clinical and genetic findings in a family with multiple cases of cavernous hemangiomas. DESIGN: Investigational clinical and genetic study in which 3 generations of a family consisting of 12 members were screened with magnetic resonance brain imaging, dilated ophthalmoscopic examination, and cutaneous survey coupled with linkage analysis to determine affected individuals and to better define manifestations of this neuro-oculo-cutaneous syndrome. RESULTS: The proband had multiple cerebral cavernous hemangiomas and a choroidal hemangioma. Her son was found to harbor a retinal cavernous hemangioma. The proband's sister manifested a cerebral cavernous hemangioma, cutaneous hemangiomas, and a presumed choroidal hemangioma; her daughter demonstrated radiological findings suggestive of a cerebral cavernous hemangioma. The father of the proband demonstrated multiple, cutaneous hemangiomas. The remaining family members were free of lesions. The 7q locus could not be excluded as harboring the causative gene. CONCLUSIONS: This family may have a dominantly inherited neuro-oculo-cutaneous condition of cavernous hemangiomas with variable expressivity. The presence of choroidal hemangiomas in this phacomatosis has not been described previously to our knowledge. CLINICAL RELEVANCE: The presence of either retinal cavernous or choroidal hemangioma should alert the physician to search for features suggestive of systemic and familial involvement; either lesion may constitute the ocular component of the neuro-oculo-cutaneous phacomatosis, sometimes referred to as cavernoma multiplex. Arch Ophthalmol. 2000;118:969-973

The natural history of macular edema after cataract surgery in diabetes.

OBJECTIVE: To determine the natural history of macular edema after cataract surgery in diabetes to provide a rational basis for laser therapy. DESIGN: Prospective clinical and angiographic trial. PARTICIPANTS: Thirty-two patients with diabetes undergoing cataract surgery. INTERVENTION: Phacoemulsification surgery with intraoperative fluorescein angiography, and postoperative clinical and angiographic assessment without macular laser therapy for 1 year after surgery. MAIN OUTCOME MEASURES: Clinically significant macular edema, postoperative macular and optic disc hyperfluorescence relative to the intraoperative angiogram, and logarithm of the minimum angle of resolution (LogMAR) visual acuity. RESULTS: In the first postoperative year, macular fluorescence remained at its intraoperative level in 2 (6%) of 32 eyes and increased in 30 (94%) of 32 eyes, returning to its intraoperative level within 1 year of surgery in 13 (43%) of 30 eyes. Optic disc fluorescence remained at its intraoperative level in 2 (6%) of 32 eyes, was not graded in 3 (9%) of 32 eyes, and increased in 27 (84%) of 32 eyes, returning to its intraoperative level within 1 year of surgery in 19 (70%) of 27 eyes. Clinically significant macular edema was identified in the first postoperative year in 18 (56%) of 32 eyes, being present at the time of surgery in 5 eyes and arising de novo within 1 year of surgery in 13 eyes. It resolved spontaneously within 1 year of surgery in 0 of 5 eyes in which it had been present at the time of surgery and in 9 (69%) of 13 eyes in which it arose in the first 6 months after surgery (P = 0.05). Angiographic and clinical resolutions of macular edema were less likely in eyes with more severe retinopathy at the time of surgery (P = 0.03, 0.005). One-year LogMAR acuity of 0.3 or less (> or = 20/40) was achieved in 27 (84%) of 32 eyes. Clinically significant macular edema at the time of surgery was associated with poorer 1-year visual acuity in multivariate analysis (P = 0.005, r2 = 0.5). CONCLUSIONS: Clinically significant macular edema present in diabetic eyes at the time of cataract surgery is unlikely to resolve spontaneously, but clinically significant macular edema arising after surgery commonly resolves, particularly if retinopathy is mild. These findings have implications for the timing of cataract surgery in diabetes and postoperative macular laser therapy. Ophthalmology 1999;106:663-668

Age-related macular disease in rural southern Italy.

OBJECTIVE: To report the prevalence of age-related maculopathy (ARM) in Salandra, a small, isolated southern Italian community, to test the hypothesis that an environmental factor, scarce in such a remote community but ubiquitous in modern industrial societies, might modify the risk of developing ARM. DESIGN: Population-based cross-sectional survey. MAIN OUTCOME MEASURES: Prevalence of advanced age-related macular degeneration (ARMD) (geographic atrophy or exudative maculopathy) and ARM (large, soft drusen or retinal pigment epithelium changes, or both) defined by fundus biomicroscopy and 30 degrees stereoscopic, macular photography. Self-sustenance was assessed by interview of participants and local shop retailers. The degree of genetic isolation was computed using a model that fits the genetic population structure with the frequency distribution of surnames in the community. RESULTS: A full ophthalmic examination was undertaken in 366 (63.5%) of 576 eligible participants, 354 (96.7%) of whom had clinical or photographic assessment for the presence of ARMD and 310 (84.6%) of whom had drusen characteristics graded on color transparencies for ARM. The overall prevalence of ARMD was 1.1%. Drusen larger than 50 microns and more numerous than 10 were found in 4.5% of subjects. Salandra was the birthplace of 87.2% of participants and for 77.3% of both parents of each subject. People in the community tended to consume homegrown products. CONCLUSION: The prevalence of ARM may be lower in this self-sustained farming community than elsewhere in the industrialized world.

Abortive neovascular outgrowths discovered during vitrectomy for diabetic vitreous haemorrhage.

Abortive neovascular outgrowths from the retina were identified in 13 out of 34 eyes (38%) undergoing vitrectomy for diabetic vitreous haemorrhage. Postoperatively, fluorescein angiography of the lesions demonstrated a characteristic "smoke-stack" pattern of dye leakage. Each outgrowth appears to represent a focal variant of preretinal neovascularisation complicating retinal capillary non-perfusion and inner retinal ischaemia, their distinctive features being determined primarily by the absence of a cortical vitreous scaffold on the retinal surface at the time of vasoproliferation.

Retinal telangiectasis in facioscapulohumeral muscular dystrophy with deafness.

A 22-year-old patient with newly diagnosed facioscapulohumeral (FSH) muscular dystrophy had a macular lesion in her right eye and poor central vision, which had been present since early childhood. Fluorescein angiographic examination revealed bilateral peripheral vessel closure, peripheral retinal telangiectasis, and hyperfluorescence in both foveae. This widespread vascular abnormality was deemed responsible for her macular disease. Her mother, brother, and sister, all of whom are affected by varying degrees of FSH muscular dystrophy and clinical deafness, also have abnormal retinal vasculature, as determined by fluorescein angiography. However, none had related visual symptoms and two showed no ophthalmoscopic evidence of vascular abnormalities. In young patients with unexplained retinal vascular lesions, the diagnosis of FSH muscular dystrophy should be considered. Similarly, young patients with FSH muscular dystrophy should be examined for sight-threatening and potentially treatable vascular retinopathy.

The dark choroid in posterior retinal dystrophies.

Many patients with heredomacular degeneration exhibit a peculiar fluorescein angiographic finding of absence of the normal background fluorescence (a dark choroid). The cause of this is unknown but may relate to the deposition of an abnormal material in the retinal pigment epithelial cells. The finding does not correlate with severity or duration of disease but is more frequent in patients with flecks. The finding may be useful in subdividing heredomacular degenerations into more specific disease groups.