Juvenile macular dystrophy associated with deficient activity of fatty aldehyde dehydrogenase in Sjögren-Larsson syndrome.

PURPOSE: To report the ocular manifestations associated with the Sjögren-Larsson syndrome in a series of patients with proven fatty aldehyde dehydrogenase deficiency. To emphasize the clinical importance of the ophthalmological features of the Sjögren-Larsson syndrome. To discuss the metabolic disturbances that might give rise to the ophthalmological picture. METHODS: Fifteen patients with Sjögren-Larsson syndrome underwent a standardized ophthalmological examination. In patients of appropriate age, and who were able to cooperate, additional investigations were performed. RESULTS: All patients exhibited bilateral, glistening yellow-white crystalline deposits that were located in the innermost retinal layers and appeared during the first 2 years of life. Repeated fundus photography in individual patients showed that the dots became more numerous as the patients got older. Photophobia, subnormal visual acuity, myopia, and astigmatism were found in most of the patients. Fluorescein angiography was performed in three patients and showed a mottled hyperfluorescence of the retinal pigment epithelium, without leakage. Color vision, electroretinography, and electro-oculography could be performed in only a small number of patients and showed no abnormalities. Visual evoked potentials were found to be abnormal in six of eight patients. CONCLUSIONS: In Sjögren-Larsson syndrome, patients exhibit highly characteristic bilateral, glistening yellow-white retinal dots from the age of 1 to 2 years onward. The number of dots increases with age. The extent of the macular abnormality does not correlate with the severity of the ichthyosis or with the severity of the neurological abnormalities. A high percentage of patients shows additional ocular signs and symptoms, notably marked photophobia.

Hereditary retinal dystrophies and choroidal neovascularization.

BACKGROUND: Choroidal neovascularization infrequently occurs in patients affected by hereditary retinal dystrophies. METHODS: We studied eight patients suffering from different hereditary retinal dystrophies (Best's disease, reticular dystrophy, butterfly-shaped dystrophy, gyrate atrophy, and retinitis pigmentosa) who developed choroidal neovascularization. All patients underwent complete ophthalmic evaluation, electrophysiology, colour vision testing, and fluorescein angiography. In some patients, ICG video-angiography was also performed. Laser treatment was carried out in only one patient. RESULTS: The mean duration of follow-up was 41.7 months (range 6-148 months). At CNV diagnosis, the mean VA was 0.23 (range 0.02-0.6). At the last follow-up, mean VA was 0.34 (range HM to 0.9). At the last follow-up, fluorescein angiography showed a focal, atrophic scar in seven eyes, a fibrotic membrane in two eyes and a still active membrane in two cases. CONCLUSION: We emphasize the relatively favourable visual prognosis in patients suffering from inherited retinal dystrophies complicated with choroidal neovascularization. Therapeutic approaches other than laser treatment could be attempted in these patients.

Anomaloscope examination in macular gliosis, macular holes and central serous choroidopathy.

BACKGROUND: Surgery for macular gliosis and macular holes has become increasingly successful with regard to anatomical outcome. Assessment of the damage to the receptors by these processes is still difficult, but is important in predicting functional outcome. METHODS: Examination with the Nagel II or the Neitz OT anomaloscope was performed in 36 patients with macular gliosis, 23 patients with full-thickness macular holes and 47 patients with central serous choroidopathy. The anomaloscope matches were expressed as the quotient of anomaly. RESULTS: In macular gliosis the mid-matching point is usually 1.0; there is no pseudoprotanomaly. In macular holes the mid-matching point is 1.0 when visual acuity is 0.3 or greater; in eyes with lower visual acuity there may be signs of diminished red sensitivity, but anomaloscope examination becomes difficult. In central serous choroidopathy the mid-matching point is shifted towards red, and pseudoprotanomaly is present, even when visual acuity is normal. CONCLUSIONS: Diseases of the inner retina, in early stages, do not alter colour vision substantially, whereas diseases of the outer retina give rise to early colour vision deficiency. In macular gliosis and macular holes, anomaloscope examination enables estimation of macular receptor misalignment.

Reticular dystrophy of the retinal pigment epithelium and choroidal neovascularization. A fluorescein and ICGV study.

We report the clinical history of 2 patients affected with reticular dystrophy of the retinal pigment epithelium and central choroidal neovascularization. With time, spontaneous reduction of the subretinal fluid associated with consequent improvement of the visual acuity has been noted in our first case. The second patient showed a stable fibrotic subfoveal choroidal neovascularization. Conventional fluorescein angiography and indocyanine green videoangiography findings are illustrated. The differential diagnosis between other reticular pigmented lesions often associated with choroidal neovascularization is discussed.

The EOG in Best's disease and dominant cystoid macular dystrophy (DCMD).

The electro-oculogram (EOG) was studied in 156 normal patients, 103 patients with Best's disease, and 52 patients with dominant cystoid macular dystrophy (DCMD). Statistical analysis was performed by comparing the distribution of Lp/Dt ratios of the groups. Strength of association between Lp/Dt ratio and age was studied with correlation and regression analysis. In normal patients and in those with Best's disease, there was no significant correlation between age and Lp/Dt ratio. Obviously, the gene defect in Best's disease causes an altered light-sensitive slow oscillation that remains stable throughout life. In DCMD patients, there was a significant negative correlation between age and Lp/Dt ratio for the total sample and for the female subgroup. Likely, the gene defect in DCMD interferes with capillary permeability, that becomes susceptible to changes of the female hormones.

Butterfly-shaped pigment dystrophy of the fovea associated with subretinal neovascularization.

BACKGROUND: The association of butterfly-shaped pigment dystrophy of the fovea, an uncommon inherited macular disease, with subretinal neovascularization has rarely been reported in the literature. CASE REPORT: We describe the clinical history of a patient affected with butterfly-shaped pigment dystrophy of the fovea, myopia, and optic nerve head dysplasia. She was followed up for 23 years. During the course of the disease, bilateral subretinal neovascularization in the macular area occurred. Fluorescein angiography confirmed the diagnosis. Recently, indocyanine green (CG) videoangiography was also performed. Because of the bilateral subfoveal localization no laser treatment was advised. DISCUSSION: Usually, good visual acuity is maintained in this uncommon inherited macular disease. However, acute visual loss can be caused by the ingrowth of subretinal new vessels. Therefore, if visual acuity decreases or metamorphopsia develops in these patients, careful biomicroscopic examination and fluorescein/ICG angiography is advisable.

Vitreous haemorrhage and other ocular complications of a persistent hyaloid artery.

PURPOSE: To report ocular complications of a persistent hyaloid artery. METHODS: We studied eight patients with persistent hyaloid artery. RESULTS: Seven patients showed strabismus and very low visual acuity (< or = 0.12) of one eye. Despite correction of refractive errors, cataract surgery and occlusion therapy for amblyopia, visual acuity had not improved in these cases. Four patients showed nystagmus. Four had progression of unilateral cataract. In two cases, a 24-year-old women and a 4-months-old boy, a vitreous haemorrhage had occurred due to rupture of a hyaloid artery, in the woman's case probably due to a spontaneous posterior vitreous detachment. CONCLUSION: A persistent hyaloid artery may be associated with strabismus, cataract, amblyopia and nystagmus. Despite amblyopia treatment, the prognosis of visual acuity of the involved eye is unfavourable. A persistent hyaloid artery may cause vitreous haemorrhage.

Surgical removal of subretinal neovascular membranes.

Since 1991 we have been gaining experience in the surgical removal of submacular subretinal membranes in patients with presumed ocular histoplasmosis syndrome (POHS), idiopathic subretinal neovascularisation, myopia and age-related macular degeneration (AMD). Seventeen patients were operated between 1991 and 1993. Significant improvement of vision was achieved in 4 out of 5 patients with POHS, 3 out of 5 with idiopathic neovascularisation, 2 out of 4 with myopia but none of 3 patients with AMD. The results suggest that subretinal neovascularisation can be successfully removed in POHS and in some forms of idiopathic neovascularisation and myopia but probably not in AMD.

Bull's eye maculopathy with trichorhexis nodosa.

The authors report on a healthy young boy with a bull's eye maculopathy and trichorhexis nodosa. The combination, though hitherto unreported, is not unexpected because there exists an immunologic relationship between the retinal pigment epithelium and the hair bulb.

Clinical application of digital indocyanine green videoangiography in senile macular degeneration.

Digital indocyanine green videoangiography (ICGV) was done in 34 eyes of 24 patients with aging macular degeneration (AMD), including drusen, either alone (6 eyes) or in association with other AMD changes (9 eyes), geographic atrophy of the retinal pigment epithelium (2 eyes), well-defined choroidal neovascularization (CNV; 3 eyes), occult CNV (12 eyes) and recurrent CNV (11 eyes). Of the 11 eyes with soft drusen, 10 showed abnormal fluorescence in the late ICGV picture. ICGV of the 4 eyes with hard drusen showed no abnormality. The geographic atrophy of the retinal pigment epithelium and choriocapillaris remained hypofluorescent with sharply demarcated boundaries throughout the study. ICGV confirmed the presence of CNV in all 3 eyes with well-defined CNV and in 11 of the 12 eyes with occult CNV. Additionally, all but 1 eye with primary occult CNV and 6 of the 8 eyes with recurrent occult CNV could be reclassified in this study as having well-defined CNV. Overall, ICGV yielded additional information in 17 of the 20 eyes with primary and recurrent occult CNV. Its clinical importance for the evaluation of early stages of AMD has still to be confirmed by future investigations. ICGV is recommended as a diagnostic examination in eyes with CNV poorly defined by fluorescein angiography.

Acetazolamide in dominant cystoid macular dystrophy. A pilot study.

UNLABELLED: Eight patients (four men, four women), with low visual acuity caused by autosomal dominant cystoid macular dystrophy, were treated daily with oral 250 mg dose acetazolamide. Treatment ranged from two to 17 months. None of these eight patients had improvement of visual acuity of more than 0.1. CONCLUSION: Treatment with 250 mg acetazolamide appears not to be an effective therapy for cystoid macular oedema in dominant cystoid macular dystrophy. The electroretinography b-wave/a-wave ratio was normal. The primary lesion in dominant cystoid macular dystrophy remains obscure.

Congenital arteriovenous communications and the development of two types of leaking retinal macroaneurysms.

We treated a patient with a rare combination of congenital arteriovenous communications and the development of leaking macroaneurysms of different types. Initially, leaking macroaneurysms developed in the shunt area of the arteriovenous communication; later, a preexistent fusiform macroaneurysm in the afferent arteriole of the congenital communication started leaking. Because exudates and fluid from the leaking macroaneurysms reached the fovea, laser treatment was performed to obliterate the macroaneurysms. We assume that after obliteration of the macroaneurysms with laser in the shunt area, the increase of hydrostatic pressure on the thin wall of the fusiform aneurysm of the afferent artery led to its leaking. We saw no signs of vascular occlusion after laser treatment.

Two new macro-stereo cameras for medical photography with special reference to the eye.

Information is given on two new macro-stereo cameras for simultaneous stereo photography designed by members of the Dutch Stereo Society. These cameras can be used for medical photography. The first camera takes half frame stereo pictures and utilizes frames for positioning and focusing. The second camera takes full frame stereo pictures and utilizes spots projection for positioning and focusing. Examples are shown.

Equipment for ophthalmological photography: Part II.

This article is the second part of a survey of ophthalmic photographic equipment available on the Dutch market. It concentrates on fundus cameras. On other markets there may be a larger choice of equipment. The lack of certain products on the Dutch market may be due to lack of representation or low sales potential. The first part of this survey which dealt with equipment for the anterior segment was published in a previous issue of this journal.

Equipment for ophthalmological photography: Part 1.

This article is intended to be a survey of the ophthalmic photographic equipment available on the Dutch market. The lack of certain products on the Dutch market is due to the lack of representation and/or low saleability. The first part of this survey deals, in alphabetical order, with equipment for photography of the anterior segment, and the second part deals with the fundus camera, which follows in a later issue.

Presumed ocular histoplasmosis syndrome and linear streak lesions.

Five cases of subretinal neovascular membranes in the macula associated with punched out chorioretinal scars and linear streaks were seen in five Dutch patients. Clinically the fundus lesions are consistent with those of presumed ocular histoplasmosis syndrome (POHS) seen in the United States of America. Cutaneous serological testing for histoplasmin reactivity was negative in the three patients tested. Of special interest is the presence of linear streaks in association with POHS. They have not been previously described in patients from Europe with this syndrome.

Contact lens induced severe epithelial disruption. A case report.

The authors describe a patient with bilateral severe disruption of the epithelium while wearing MMA/VP70 contact lenses. Withdrawal of the contact lenses and the contact lens care system resulted in complete recovery. Later on Boston IV contact lenses with another care system were fitted successfully.

Congenital sensory neuropathy. Ophthalmological implications.

The authors examined a patient presenting with congenital sensory neuropathy with selective loss of small myelinated nerve fibres. The appearance of (bilaterial) keratitis or corneal ulceration in early childhood is strongly suggestive of congenital corneal anaesthesia. Concomitant symptoms such as anisocoria, abnormal pupillary reaction, diminished tear production and disturbed sensibility to pain and temperature point to a generalized disease: one of the hereditary sensory and autonomic neuropathies. In order to establish a definite diagnosis, elaborate neurological examination, including ultrastructural study of a muscle-nerve biopsy, is required. Tarsorrhaphy, therapeutic flushfitting PMMA scleral lenses and hydrophilic HEMA contact lenses are advocated, in order to protect the cornea. The results with high-water-content hydrophilic contact lenses are promising, those of keratoplasty limited.