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PubMed2006

[Fundus albipunctatus incidentally discovered in a black African man].

Fundus albipunctatus is a recessive autosomal disease classified as one of the causes of congenital stationary night blindness. It is characterized by early hemeralopia beginning in infancy. We report the incidental discovery of the disease in a 23-year-old black African man with late hemeralopia onset. During the 4 years of follow-up, visual acuity, ERG, and visual field remained normal. We underline the possibility of late hemeralopia onset and discuss the possible progressive features of this disease. Progression may be conditioned by the mutation of the RDH5 gene, which codes for retinol dehydrogenase-5.

Adult↗
PubMed2000

[Ocular manifestations associated with vitamin A deficiency in a rural area of Burkina Faso].

Vitamin A deficiency can cause nyctalopia, hemeralopia, xerophthalmia, and even blindness. Studies have demonstrated the extent of this problem in various regions of Burkina Faso but extrapolation of these findings to other countries is difficult because of methodological problems. In the initial phase of study, signs of hemeralopia were noted in 14 of 466 children between the ages of 6 and 14, indicating an incidence of 3 p. 100 in this age group. In the second phase, examination of 281 subjects of all ages from 30 randomly selected families in the same village indicated that the incidence of hemeralopia was 3.9 p. 100 (6 p. 100 in children between 2 and 5 years old). Clinical examination demonstrated evidence of xerophthalmia in 7 p. 100 of subjects. The incidence fell to 50 p. 100 after the mango season and to 0 p. 100 after administration of 200,000 IU of vitamin A. Of the 8 cases of blindness observed in this study, 5 were due to onchocerciasis and 2 to vitamin A deficiency. These findings document the role of vitamin A deficiency in the occurrence of severe ocular manifestations in Burkina Faso and underline the need for preventive action.

Adolescent↗
PubMed1987

Neuro-ophthalmic presentation of cone dysfunction syndromes in the adult.

Cone dysfunction syndromes are probably part of the spectrum of cone-rod degenerations and can present with widely varying clinical pictures. Thus, although the age of onset is usually before the third decade, patients can present at any age, and, although family history is usually positive, in typical cases it may be quite negative. Patients can have initially very subtle, bizarre, or poorly described visual complaints so that numerous examiners may label them "functional" or "malingering." They can present with the classic symptoms of hemeralopia, poor acuity, and reduced color vision, but these complaints may be absent. Visual acuity and color vision can be normal or severely reduced and the fundi may show classic changes such as bulls-eye maculopathy, macular choroidal atrophy, pigment clumping in the maculae, mild peripheral pigmentary changes, or a fundus flavimaculata-like change. The patients here reported were considered as having normal fundi by several competent ophthalmologists as a rule, however. Visual fields can vary from normal to ring scotomas, central scotomas, and other interesting types of defects, even simulating a hemianopia. Although involvement is usually symmetrical between the two eyes, this is not always the case, and one of our patients had a strictly uniocular cone dystrophy. Cone dysfunction can be considered in a patient of any age even with normal acuity, good color vision, and a normal ophthalmoscopic examination. A high index of suspicion should prompt specific questioning about hemeralopia, or reduced visual function in brightly illuminated situations, and better vision in twilight or under dim illumination. Patients may falsely describe hemeralopia as "glare" or "photophobia." Careful testing of color vision, a meticulous tangent screen examination, and specifically looking for diffuse narrowing of retinal arterioles in a patient with an otherwise normal fundus appearance will usually suffice to prompt the clinician to order electroretinography, which is the definitive diagnostic criterion for the cone dystrophies. It is important to consider this diagnosis before embarking on an otherwise fruitless and expensive neuroimaging investigation.

Adult↗
PubMed1991

Clinical and electroretinographic comparison between Aland Island eye disease and a newly found related disease with X-chromosomal inheritance.

Two subjects representing AIED (Aland Island Eye Disease) and a family with 5 males affected with an AIED related X-linked hereditary eye disease were studied clinically and electrophysiologically. The clinical picture of AIED includes myopia and astigmatism, reduced visual acuity, nystagmus, ocular albinism, hemeralopia and dyschromatopsia (No. 300600, McKusick 1990). The subjects with the related disease showed astigmatism with or without myopia, reduced visual acuity, slight hemeralopia, normal color vision in 3/5 subjects, no ocular albinism and nystagmus only in one case. In both diseases the ERG was abnormal showing defective a- and b-waves, but there were also differences. The most notable was the greater reduction of the b-wave amplitude in the mixed (rod and cone) responses for the white stimulus in the ERG of the AIED related disease. With regard to the pathogenesis we propose that in both diseases rod and cone functions are defective but in an AIED related disease a defective cone function inhibits the transmission of the rod signals to the rod bipolars, causing greatly reduced mixed responses. The clinical and ERG findings of this study suggest that the 5 subjects of our family do not represent AIED but another X-linked hereditary eye disease. The investigation to find out the gene locus of this disease is going on.

Adolescent↗
PubMed1977

[Electro-ophthalmological examination results in fundus heterotopicus (author's transl)].

A single-flash ERG and an EOG were performed in four cases of fundus heterotopicus. While the EOG responses showed a normal light and dark adaptation, the ERG registered a subnormal a- and b-wave, corresponding to the extent of the medial ectasia. Where hemeralopia was present, the ERG showed a monophasic a-wave and a markedly reduced b-wave. That means that in addition to the simple fundus heterotopicus, there is also a form with several clinical characteristics in which a hemeralopia is adaptometrically and electroretinographically demonstrable.

Adaptation, Ocular↗
PubMed1995

[Paraneoplastic retinopathy associated with cutaneous melanoma. An update apropos of a case].

BACKGROUND: Ocular paraneoplastic syndromes are rare, and consist of optic neuropathy or retinopathy. Classically, these syndromes are related to carcinoma. Melanoma-associated retinopathy is extremely rare, and unrecognized. METHODS: A patient with metastatic cutaneous melanoma discovered and operated 18 months before. Visual complains consisted of xanthopsia and shimmering light vision, then hemeralopia, which dramatically worsened. Classical clinical examination, visual field and electroretinogram were performed. RESULTS: Visual acuity was 20/25, and fundus examination was normal. The visual field showed a tubular aspect, with V4 isopter remained, like an advanced retinitis pigmentosa. The photopic electroretinogram was negative, and the scotopic one was flat. CONCLUSION: This recent hemeralopia with normal fundus and "negative" electroretinogram, ruled out congenital stationary night blindness diagnosis, and suggested the diagnosis of melanoma-associated retinopathy. This is a rare paraneoplastic syndrome since to date only 7 cases have been reported. Immunochemistry studies, that show antibodies directed against bipolar cells, are consistent with selective reduction of the electroretinogram b wave.

Humans↗
PubMedDate not supplied

The first German textbook of ophthalmology "Augendienst" by G. Bartisch, 1583.

This book contains various illustrations, portraits and an exact index, testimonials proving the author's professional successes as well as an accurate list of the qualities that should be demanded from any ophthalmologist. The anatomy of the head and eye is described according to Galen's ideas and Vesalius' book. Many remedies, prescriptions and medical treatments are discussed, partly showing the mystic influences of the Middle Ages. Bartisch reports several diseases for the first time: Allergic reactions, sympathetic ophthalmia, hemeralopia, photoelectric keratoconjunctivitis, amaurosis due to toxemia of pregnancy. But most important is the part on surgery. A careful pre- and postoperative treatment is demanded in cases of cataract operations. Bartisch describes the removal of eyelashes to cure trichiasis, the operations of ptosis, blepharochalasis and the exenteration of the orbit. This book was appreciated for a long time so that in 1686 a nearly identical reprint was published.

Books↗
PubMed1996

Increased risk of autoimmune hypothyroidism in patients affected by retinitis pigmentosa.

Patients with Retinitis Pigmentosa (RP) show hemeralopia, restricted field of vision and reduced visual acuity, owing to the degeneration and proliferation of photoreceptors and a retinal pigment epithelium. The prevalence in Italy is 1:4,000. A certain number of "syndromic" associations have been described, and, in particular, also that with hypothyroidism, but very few cases have been studied. We describe a family of 40 people, spanning four generations, in which we have recorded the presence of autosomic dominant RP, associated with autoimmune hypothyroidism or with circulating antithyroid autoantibodies (ATA), currently considered as the expression of active autoimmune thyroiditis or a risk factor for this complaint. We measured, in all members, TSH, FT3, FT4, antithyroglobulin and antithyroperoxidase autoantibodies. A fundus oculi examination was performed in every subject, as well as a careful examine of the anterior region on the neck. A control population of 100 healthy people was also studied. Our data show a higher prevalence of ATA, statistically significant, in the patients with RP and in their relatives, compared with the control population and the data from the literature (13 cases over 40 = 32.5%; p < 0.01). 3 patients with RP and ATA were affected by clinically evident hypothyroidism. 10 patients with ATA were clinically euthyroid; 8 patients affected by RP did not show circulating ATA at the time of the study. The interest for the physician in this "syndromic" retinal distrophy reflects the need, emerging from our data, to test the thyroid function in the subjects with RP and in members of their families, since circulating ATA are considered a risk factor for the development of autoimmune hypothyroidism.

Autoantibodies↗
PubMed1978

Electroretinographic responses in Lafora disease.

In 3 patients with Lafora disease specific ERGs were observed resembling closely those seen in the Schubert-Bronschein type of night blindness. In contrast to essential hemeralopia, where the b-wave is completely lacking a gradual recovery of the b-wave was recorded in Lafora disease. The recovery occurred within about 15 min of dark adaptation. ERG examinations may have diagnostic significance in patients with myoclonic epilepsy.

Adolescent↗
PubMed1996

Clinical study of a large family with autosomal dominant progressive cone degeneration.

PURPOSE: Autosomal dominant cone degeneration is an uncommon disorder characterized by progressive photophobia, hemeralopia, decreased central vision, and dyschromatopsia. To better understand the variable expressivity of autosomal dominant cone degeneration, we studied a single, large family. METHODS: We performed comprehensive ophthalmic examinations, full-field electroretinography, foveal electroretinography, and color vision studies on 73 family members. RESULTS: Of the 73 family members, 34 were affected. Symptoms generally began in the first decade of life and slowly progressed into midlife. Ophthalmoscopic findings consisted primarily of macular granularity or central macular atrophy. The photopic full-field electroretinogram was important in establishing the diagnosis, although the results of the electroretinographic measurements varied across individuals. Either the foveal electroretinogram amplitudes were abnormally low or the foveal/parafoveal ratio was abnormal in all affected subjects. CONCLUSIONS: No single test or finding was completely sensitive or specific for accurate diagnosis of autosomal dominant cone degeneration. Especially in the more mildly affected subjects, a constellation of symptoms, findings, and test results were used to diagnose autosomal dominant cone degeneration accurately.

Adolescent↗
PubMed1999

Autosomal dominant Stargardt-like macular dystrophy: I. Clinical characterization, longitudinal follow-up, and evidence for a common ancestry in families linked to chromosome 6q14.

PURPOSE: Characterize the phenotype of autosomal dominant Stargardt-like macular dystrophy in two families linked to chromosome 6q14 and determine whether they share a common ancestry. METHODS: Two families spanning 10 generations were identified and studied independently. Participating members were examined and genetic linkage and genotyping performed. RESULTS: Presenting symptoms included decreased vision, hemeralopia, and mild photophobia. The subjective onset of visual loss ranged from age 3 to 50 with a mean of 14 years. A Snellen acuity of 20/200 occurred at a mean age of 22 years. Over decades, the macular lesion enlarged and visual acuity decreased to 20/300 to 20/800. The typical phenotype was well-circumscribed, homogenous atrophy of the retinal pigment epithelium and choriocapillaris in the macula, with surrounding yellow flecks and temporal optic nerve pallor. The phenotypic spectrum included a pattern dystrophy-like appearance, diffuse geographic atrophy, and extensive fundus flecks. Genotyping revealed that the two families were linked to chromosome 6q14 and shared a common haplotype spanning 21 cM between D6S430 and D6S300. The two families were subsequently shown by genealogic investigation to represent different branches of a common kindred. CONCLUSIONS: Families with autosomal dominant Stargardt-like macular dystrophy linked to chromosome 6q14 share a common phenotype and in some cases can be distinguished from similar dystrophies by inheritance pattern and clinical features. The finding that these two families shared a common ancestor suggests the existence of a founder effect. Characterization of the gene for autosomal dominant Stargardt-like macular dystrophy may enable better understanding of this condition and elucidation of its potential role in other forms of macular degeneration.

Adolescent↗
PubMed2004

[A case of a retinitis pigmentosa and asteroid hyalosis].

Asteroid hyalosis is a rare degenerative condition of the vitreous. No causal relationship between retinitis pigmentosa and asteroid hyalosis has been established. We report a case of a 65-year-old male admitted for progressive hemeralopia. Visual acuities were 2/10e in the right eye and 4/10e in the left eye. Ophthalmic examination revealed a large number of asteroid and refringent bodies, a typical retinitis pigmentosa with a cystoid macular oedema confirmed by fluorescein angiography. Electrodiagnostic testing revealed an altered electroretinogram. Visual fields showed a typical generalized constriction. We discuss the clinical aspects and physiopathogenic mechanisms of this rare association through this case and other cases found in the literature.

Aged↗
PubMed1983

[Gyrate atrophy of the choroid and retina with hyperornithinemia in an African family].

The authors report on a Kenyan family in which 4 of the 5 siblings were suffering from gyrate atrophy of the choroid and retina with hyperornithinemia. All the affected members of the family had myopia, hemeralopia, loss of vision and constricted visual fields but no cataract. To the authors' knowledge this is the first African family with gyrate atrophy to be reported.

Adolescent↗
PubMed1984

Further delineation of the Cohen syndrome; report on chorioretinal dystrophy, leukopenia and consanguinity.

Six new patients with the Cohen syndrome are reported from Finland and 25 published cases from elsewhere are reviewed. New findings are consanguinity among two pairs of parents, granulocytopenia, and marked ophthalmological changes: decreased visual acuity, hemeralopia, constricted visual fields, chorioretinal dystrophy with bull's-eye-like maculae and pigmentary deposits, optic atrophy, and isoelectric electroretinogram. Previously known features of the Cohen syndrome (non-progressive mental retardation, short stature, microcephaly, peculiar facies, slender hands and feet, floppiness, delayed puberty) are confirmed or revised. The ophthalmological features merit attention in the previous and future suspected cases of the Cohen syndrome. Autosomal recessive inheritance can be taken for granted.

Abnormalities, Multiple↗