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.

Identifying maculopathy after neodymium: YAG membranotomy for dense diabetic premacular hemorrhage.

PURPOSE: To assess the value of neodymium:YAG membranotomy in achieving rapid intravitreal dispersion of dense diabetic premacular hemorrhage and allowing the identification and treatment of maculopathy before panretinal photocoagulation (PRP). METHODS: A pilot study, in which nine eyes with dense diabetic premacular hemorrhages were treated with neodymium:YAG membranotomy, is described. After intravitreal dispersion of premacular blood, fundus examination and fluorescein angiography were performed to identify neovascularization and macular edema. Macular photocoagulation was performed before PRP in eyes with co-existing maculopathy and neovascularization. RESULTS: Complete intravitreal dispersion was achieved in all eyes within 1 week. Clinically significant macular edema was identified and treated, before PRP, in three eyes. No exacerbation of macular edema occurred after PRP, and visual acuity was stabilized at pre-hemorrhage levels in seven eyes and to within one line in the remaining two eyes. No traction retinal detachments or rebleeding occurred, and vitrectomy was not required in any eye. CONCLUSIONS: Early neodymium:YAG membranotomy may obviate the need for early vitrectomy for dense diabetic premacular hemorrhage, and allows early identification and treatment of maculopathy, before PRP, thus reducing the risk of exacerbation after PRP. Further studies to evaluate this treatment modality, particularly with respect to long-term visual prognosis, appear warranted.

Retinal angiography in divers.

OBJECTIVE: In the light of previous reports, to examine the possibility that professional diving might cause abnormalities of the retina and choroid. METHODS: The retinal fluorescein angiograms of 55 Royal Naval divers and 24 non-diver servicemen were compared. RESULTS: No differences were found between divers and non-divers and the prevalence of abnormalities was not correlated with diving experience. CONCLUSION: In contrast to previous reports, there seem, at least in naval personnel, to be no ocular consequences of diving.

Retinal vascular abnormalities. A rare complication of myelinated nerve fibers?

BACKGROUND: Myelinated nerve fibers of the retina occur in approximately 0.98% of the population. Although they are generally believed to be benign lesions, they occasionally are associated with ocular complications. METHODS: The authors report a series of six cases of myelinated nerve fibers complicated by retinal vascular abnormalities, three of which presented clinically as recurrent vitreous hemorrhage. The cause of the retinal vascular abnormalities remains unclear; however, from fluorescein angiography, it would appear likely that underlying inner retinal ischemia may be implicated. One patient with troublesome recurrent vitreous hemorrhage was treated with argon laser photocoagulation. RESULTS: These cases illustrate that although vascular abnormalities are a rare complication of myelinated nerve fibers, they can cause visual and diagnostic problems for these patients and their physicians. CONCLUSION: Although the authors' experience in treating these lesions is limited, they believe that in one treated case, argon laser photocoagulation was useful in halting recurrent vitreous hemorrhage.

Sorsby's fundus dystrophy. A clinical study.

A survey was undertaken of a family known to have Sorsby's fundus dystrophy. Fifty members were reviewed, and 14 were found to be affected. Many of Sorsby's original conclusions were confirmed, including the pattern of inheritance and age of visual loss. Yellow material was present at the level of Bruch's membrane early in the course of the disease. However, the earliest phenotypic marker was delayed filling of the choriocapillaris. Abnormalities of choroidal perfusion became more profound and extended centrifugally with time. The loss of central vision was commonly due to atrophy of the outer retina and choroid. Subretinal neovascularization was a rare occurrence. The homology between this dystrophy and age-related macular disease underlines the importance of the clinical findings in this family.

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.

Ocular fundus lesions in divers.

Retinal fluorescein angiography was used to examine the ocular fundi of 84 divers. The retinal capillary density at the fovea was low and microaneurysms and small areas of capillary nonperfusion were seen. The divers had significantly more abnormalities of the retinal pigment epithelium than a comparison group of non-divers. Furthermore, the prevalence of fundus abnormality was related to length of diving history. All observed changes were consistent with the obstruction of the retinal and choroidal circulations. Such obstruction could be due either to intravascular bubble formation during decompression, or to altered behaviour of blood constituents and blood vessels in hyperbaric conditions.

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.

Sorsby's pseudoinflammatory macular dystrophy.

Forty-three additional members of a family described originally by Sorsby and Mason have been examined in order to typify pseudoinflammatory macular dystrophy more accurately. Six new affected members were identified by history alone and a further 7 were examined. Vision is lost from disciform macular degeneration generally during the 5th decade of life. Thereafter peripheral degeneration occurs in some affected members. Before loss of vision the fundus changes include fine drusen-like deposits at the level of Bruch's membrane, angioid streaks, and plaque-like deposits of yellow subretinal material in the macular region. These changes are different from those seen in dominant drusen.

Tears of detached retinal pigment epithelium.

Ripping of detached pigment epithelium appears to be a common sight-threatening complication of pigment epithelial detachments and occurs at the junction of the detachment and flat pigment epithelium. The characteristics of the detachment prior to the rip suggest that the tear occurs in pigment epithelium which is detached without its basement membrane. The tear is followed by retraction of the pigment epithelium, revealing bare Bruch's membrane. The defect may remain apparently unaltered, or may be recovered by normal looking pigment epithelium, but most commonly is replaced by a fibrous plaque. Most patients had a profound reduction in visual acuity.

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.

PIgment epithelial diseases with abnormal choroidal perfusion.

Sixteen patients, seen during the first week of their disease, had swelling of the retinal pigment epithelium and angiographic evidence of a widespread abnormality of choroidal filling. The patients fell into three groups: In Group 1 there were multifocal pigment epithelial lesions identical to those of acute posterior multifocal placoid pigment epitheliopathy. In Group 2 the pigment epithelial lesions were confluent. The retina was not detached in either of the these groups. In Group 3, multifocal lesions of the pigment epithelium were associated with retinal detachment. We postulated that all patients had diffuse choroidal hypoperfusion and focal pigment epithelial infarct which, in turn, may have been caused by a variety of basic disorders. We detected no relevant systemic abnormalities in any of the patients.

Autosomal dominant exudative vitreoretinopathy.

Twelve affected members from 3 families with autosomal dominant exudative vitreouretinopathy were examined, and the following conclusions were drawn: (1) There is great variability in the phenotypic expression of the abnormal gene, such that many patients have very mild disease which can be detected with certainty only by fluorescein angiography. (2) Gene penetrance is close to 100%. (3) Progress of fundus changes and visual threat is rare after 20 years of age.