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Editor,—Macular degeneration is a clinical term used to describe a variety of diseases characterised by progressive loss of central vision associated with abnormalities of Bruch’s membrane and the retinal epithelium. This dominantly inherited disorder, characterised by a radial pattern of innumerable small elongated basal laminar drusen, was initially reported in a family from the Leventine Valley (Switzerland).1 2 The gene responsible for autosomal dominant malattia leventinese has been mapped to the short arm of chromosome 2p16–21.3 4 We report the case of a woman who developed unusual complications associated with this disease during a 25 year follow up.
CASE REPORT
In 1973, ophthalmological examination led to a diagnosis of bilateral hereditary macular dystrophy (malattia leventinese) in a woman born in 1943. Her visual acuity was then 20/20 for both eyes without any correction (Fig 1A).
(A) Right eye. Fundus photograph in 1973 shows a radial pattern of innumerable small elongated basal laminar drusen. (B) Right eye. Fluorescein angiogram in 1981 shows submacular neovascularisation with fluorescein leakage.
In 1981, subfoveal neovascularisation led to an irreversible decrease in visual acuity in her right eye, down to 20/1000 (Fig 1B).
In 1996, a dense right vitreous haemorrhage led to a further decrease in acuity. After resorption, fundus examination disclosed an advanced stage of the macular disease with irregular subretinal metaplasia, hyperplasia of the retinal pigment epithelium and discrete radial basal laminar drusen (Fig 2A). The fundus also showed a wedge-shaped superotemporal area with intraretinal haemorrhages, hard exudates, and sheathed vessels. The fluorescein angiogram showed telangiectatic vessels, shunt vessels, and microaneurysms, in addition to neovascularisation (Fig 2B). After laser photocoagulation, no further intravitreous haemorrhage episode occurred. The left eye had a visual acuity of 20/30 and fundus examination revealed a macula identical to that of the right eye, without complication.
(A) Right eye. Photograph in 1996. Advanced stage of the macular disease with irregular subretinal fibrous metaplasia, hyperplasia of the retinal pigment epithelium, and discrete radial basal laminar drusen. Note also a wedge-shaped superotemporal area with intraretinal haemorrhages, hard exudates, and sheathed vessels. (B) Right eye. Fluorescein angiogram in 1996. Note the temporal retinal ischaemia with telangiectatic vessels, shunt vessels, and microaneurysms, in addition to the neovascularisation.
COMMENT
In malattia leventinese, the maculopathy is characterised by a radial pattern of innumerable small elongated basal laminar drusen.5 This maculopathy has been described in a 15 year old patient.3 The visual acuity of patients suffering from malattia leventinese, however, remains good for quite a long time.3 Thus, most patients are asymptomatic until the fourth or fifth decade of life, at which point they have a variety of symptoms, including decreased visual acuity, paracentral scotomas, photophobia, and metamorphopsia.3 The main complication is macular subretinal neovascularisation, reported in some patients.6 In our present case, such macular subretinal neovascularisation caused a severe decrease in visual acuity down to 20/1000 in 1981. The contralateral eye was unaffected, fortunately conserving an acuity of 20/30.
We have here described the first example of peripheral retinal neovascularisation with ischaemia. The aetiology of this ischaemia probably concerns a retinal vein branch occlusion not linked with macular degeneration. The occlusion had developed very discreetly, with the patient aware of no functional sign. In fact, visual acuity was already severely impaired by the neovascular complication of the macula and only the nasal visual field was affected, whence the lack of ocular disturbance. No aetiology could be found for the occlusion. A general check up showed no systemic abnormality.
Thus, this observation suggests the need for great attention to be paid to the retinal periphery in patients suffering from macular dystrophy, whether hereditary or not, so as to prevent the development of potentially serious complications.
Acknowledgments
This work was supported in part by the Hospices Civils de Lyon and the Université Claude Bernard Lyon I