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PubMed1986

Usher syndrome in four Norwegian counties.

Among 89 probands selected for tapeto-retinal degeneration, 18 (20%) were given the diagnosis of Usher syndrome. Among the relatives of the probands another 10 cases of Usher syndrome were found. The distribution on type diagnoses was: Usher syndrome type I: 14 cases, type II: 10 cases and type III: four cases. The pattern of inheritance was autosomal recessive for 12 families, and the remaining six probands were solitary cases without consanguinity between the parents. There was a high intrafamiliar correlation with respect to hearing function, indicating genetic heterogeneity in Usher syndrome. Obligate heterozygotes did not demonstrate heterozygote manifestation. One man with Usher syndrome type I was psychotic, the remaining 27 did not demonstrate serious psychic disturbances. Atactic gait was not observed, though vestibular response was abolished in three patients with Usher syndrome type I. Three patients with type II and one person with type III had normal vestibular response. The prognosis for visual function was not highly correlated to the type diagnosis or to the age when hemeralopia was first noticed. Visual function was good before 30 years of age and bad in most patients after the age of 50.

Adolescent↗
PubMed2002

Canine inherited retinal degenerations: update on molecular genetic research and its clinical application.

Inherited retinal degenerations in the dog include generalised progressive retinal atrophy, retinal pigment epithelial dystrophy, congenital stationary night blindness and day blindness (hemeralopia). The clinical phenotype and pathology of these diseases closely resemble some types of human inherited retinal degeneration, in particular retinitis pigmentosa, one of the most common inherited causes of blindness in man. Molecular genetic investigations aim to identify the genetic mutations underlying the canine inherited retinal degenerations. Two major research strategies, candidate gene analysis and linkage analysis, have been used. To date, candidate gene analysis has definitively identified the genetic mutations underlying nine inherited retinal degenerations, each in a different breed of dog, and linkage studies have identified genetic markers for a further retinal degeneration which is found in at least six different breeds. This review outlines the research strategy behind candidate gene and linkage studies and summarises recent results in the search for genetic causes of canine inherited retinal degenerations. The aim is to increase awareness of this rapidly changing field and to show how the research can be used to develop genetic tests for these diseases and thereby reduce the incidence of inherited eye disease in dogs.

Animals↗
PubMed2005

A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD).

PURPOSE: To elucidate the phenotypic and biochemical characteristics of a novel mutation associated with autosomal dominant cone-rod dystrophy (adCORD). METHODS: Twenty-three family members of a CORD pedigree underwent clinical examinations, including visual acuity tests, standardized full-field ERG, and fundus photography. Genomic DNA was screened for mutations in GCAP1 exons using DNA sequencing and single-strand conformational polymorphism (SSCP) analysis. Function and stability of recombinant GCAP1-L151F were tested as a function of [Ca(2+)], and its structure was probed by molecular dynamics. RESULTS: Affected family members experienced dyschromatopsia, hemeralopia, and reduced visual acuity by the second to third decade of life. Electrophysiology revealed a nonrecordable photopic response with later attenuation of the scotopic response. Affected family members harbored a C-->T transition in exon 4 of the GCAP1 gene, resulting in an L151F missense mutation affecting the EF hand motif 4 (EF4). This change was absent in 11 unaffected family members and in 100 unrelated normal subjects. GCAP1-L151F stimulation of photoreceptor guanylate cyclase was not completely inhibited at high physiological [Ca(2+)], consistent with a lowered affinity for Ca(2+)-binding to EF4. CONCLUSIONS: A novel L151F mutation in the EF4 hand domain of GCAP1 is associated with adCORD. The clinical phenotype is characterized by early cone dysfunction and a progressive loss of rod function. The biochemical phenotype is best described as persistent stimulation of photoreceptor guanylate cyclase, representing a gain of function of mutant GCAP1. Although a conservative substitution, molecular dynamics suggests a significant change in Ca(2+)-binding to EF4 and EF2 and changes in the shape of L151F-GCAP1.

Adolescent↗
PubMed1985

Tapetochoroidal degeneration combined with cataract and lentodonesis.

Presumably the combination of regional choroidal atrophy, cataract and lentodonesis is a new genetic entity. The hereditary transmission seems to be autosomal-recessive. As the first visual impairment, hemeralopia is noted during the second decade of life. In these early stages patches of choroidal atrophy are limited to the intermediate and perimacular zone. ERGs are not known from these early stages. Later on, no scotopic and only subnormal photopic reactions are registered. The patients can do their work relatively well until the end of the sixth decade, when a cataract develops and the choroidal atrophy gradually extends to the posterior pole. Together with the cataract, a lentodonesis is developing. The lentodonesis is caused by degeneration and elongation of the zonular fibres. Therefore, in order to escape the danger of a lens-subluxation or a lens-luxation into the anterior chamber, an intracapsular extraction should be done at an early stage of lentodonesis. In spite of this, the visual prognosis is poor, since the areas of choroidal atrophy are gradually enlarging. In these late stages the macula seems to be involved in all cases.

Atrophy↗
PubMed2000

[Gyrate atrophy of the choroid and retina: a case report].

BACKGROUND: Gyrate atrophy of the retina and choroid is a rare disease, with recessive autosomal transmission, characterized by progressive chorioretinal atrophy causing blindness. It results from a congenital deficit in aminotransferase ornithine. CASE REPORT: The authors present the case of a young patient aged 15 years old consulting for a progressive fall of visual acuity with hemeralopia. Eye funduscopy showed regions of confluent rounded chorioretinal atrophy. The visual field, the electroretinogram and the retinal angiography were all alterated. Gyrate atrophy of the retina and choroid was evocated. DISCUSSION: It is a systemic and rare metabolic disease where ocular features are dominating. Differencial diagnosis are pigmentary retinopathies. Cataract and/or myopia are often joined to the retinal lesions. General signs could consist in muscular weakness, thin and rare hairs and mental retardation. More than; visual fields, electroretinogram, retinal angiography that are alterated; the plasmatic dosage of the ornithine is often high. The treatment is based on the dietetics with uncertain results. The genic therapy would be the treatment of future.

Adolescent↗
PubMedDate not supplied

Benediktos Adamantiades and his forgotten contributions to medicine.

Benediktos Adamantiades was born in Prousa, Asia Minor in 1875, studied at the Medical School of the University of Athens and specialised in ophthalmology in Paris. After being director of the Ophthalmology Department of Hippocration Hospital in Athens he developed significant scientific activities. During the annual meeting of the Medical Society of Athens on November 15, 1930, Adamantiades presented "A case of relapsing iritis with hypopyon" identifying the three major signs of the so called Adamantiades-Behçet's disease and insisting on a single clinical entity. In the same year, his lecture was published in the Proceedings of the Medical Society of Athens, and in 1931 in the French journal Annales d'Oculistique. In the year 1946, Adamantiades defined thrombophlebitis as the 4th major sign of the disease. Later, he presented the first classification of the disease by describing the ocular, mucocutaneous and systemic forms in a review work. He pointed out that the disease can occur for years as a monosymptomatic or oligosymptomatic disorder and that eye involvement and severe prognosis are more common in men than in women. In this work he also proposed the first diagnostic criteria. In addition to Adamantiades-Behçet's disease, Adamantiades described the interstitial keratitis in trachomatic patients to be a bacterial infection and classified the epidemic idiopathic hemeralopia. Further pioneer works were those on the marginal corneal degeneration, the posterior vitreous detachment, the measurement of the optic fundi and of the ocular pressure as well as investigations on trachoma and the pathogenesis of glaucoma. Adamantiades compiled over 150 scientific papers many of which marked a new stage in his field. He died in 1962 in Athens.

Behcet Syndrome↗
PubMed1991

Anandron (RU 23908) in metastatic prostate cancer: preliminary results of a multicentric Italian study.

Between March 1986 and March 1987, 48 patients with stage D prostate carcinoma were entered into a multicentric pilot study using the pure nonsteroidal antiandrogen nilutamide (Anandron--RU 23908) at the dose of 100 mg t.i.d. as the only therapy until disease progression or the occurrence of toxicity. Minimum follow-up was 15 months. Median age of patients was 72 (56 to 83) and median initial Performance Status (PS) was 1 (0 to 3). Of the 48 patients, 29 were untreated, while 19 patients were progressing following treatment by orchiectomy, LHRH analogs, or other endocrine therapies. According to the National Prostatic Cancer Project (NPCP) criteria, 43 patients were evaluable for response. Overall best response in untreated patients was partial response (PR), 41.6%; stationary disease (SD), 54.1%; 73.6% of pretreated patients achieved SD. Median progression-free survival and overall survival in untreated patients were 325 and 696 days, respectively, and 174 and 447 days, respectively, in pretreated patients. The more common side effects were G.I. toxicity (65%), hemeralopia (27%), and alcohol intolerance (6.2%). Results of this study suggest that Anandron may be a safe and effective treatment for patients with advanced prostatic cancer.

Aged↗
PubMed1990

[Additions to the theory of the dual nature of photoreception].

On the grounds of clinico-physiologic investigations the author revises the existing dual theory of photoreception. The paper describes complex clinical investigations of visual functions in patients with alimentary and essential hemeralopias and shows that rods and cones do not function in conditions of scotopic illumination without the presence of rhodopsin. On the grounds of investigations of the phenomenon of inversion and depression in the short-wave part of the visible spectrum in normal persons after dark adaptation in conditions of scotopic illumination, the author comes to a conclusion that there is a so-called "rhodopsin filter" just the presence of which in the process of dark adaptation creates conditions for appearance of this phenomenon. The author believes that there exist two kinds of photoreception: a direct disc two-component and a mediated rhodopsin one-component, as well as the third, transitory, that corresponds to those conditions of illumination in which the Purkinje's phenomenon appears.

Color Perception↗
PubMed1989

[Mitochondrial myopathy. Encephalopathy with lactic acidosis and cerebral infarction].

A 21 year-old man presented with a history of sudden onset of aphasia and headache. CT showed a left parietal hypodensity and pallidal calcifications. The ECG showed a Wolff-Parkinson-White's syndrome. The patient then developed successively focal epileptic seizures, temper disorders, a cardiomyopathy, a pepper and salt retinopathy with hemeralopia, a left hemiplegia, deafness, and fever of unexplained origin. Left carotid angiography showed thin, irregular or occluded branches of the middle and anterior cerebral arteries. Blood muscle enzymes, lactate and pyruvate, were elevated with acidosis. Muscle biopsy revealed a mitochondrial myopathy and blood chemistry showed a severe deficiency of respiratory chain enzymes. Death occurred after 28 months. This case showed the diagnostic features of Melas, with some elements of the Kearns-Sayre syndrome. To our knowledge, this is the first case were serial angiographies allowed demonstration of arterial changes capable of explaining cerebral infarctions.

Acidosis, Lactic↗
PubMed1978

[Vitaminology for practitioners. II. Avitaminoses, risk, latency period, classification].

The concept of risk in the field of avitaminoses is very important and useful for the practitioner, who should consider two aspects: a) risk factors, which could be individual (physiological, pathological and psychological) and extra-individual (alimentary, environmental, etc.); b) subjects with an elevated risk of avitaminosis (childhood, old age, pregnancy, etc.). In these subjects the risk can be a generical one, when there is an elevated requirement for all vitamins (nursing women, sportmen, etc.) or a specific one, when there is a high requirement only for a single vitamin (osteomalacia, some professional diseases, use of oral contraceptives) or a vew of them (alcoholism, diabetes, etc.). On the basis of this kind of knowledge it is easy for the practitioner to estimate which vitamins are necessary for each subject or for a group of subjects in physiological or in pathological conditions. For example, there is an elevated risk of apyridoxinosis in old age (acalciferolosis in aged women), of athiaminosis and apyridoxinosis in diabetes, of apyridoxinosis in oral contraceptives users, of axeroftolosis in hyperthyroidism, of athiaminosis, apyridoxinosis, aniacinosis and anascorbosis in alcoholics. In the second chapter the concept of the latency period in avitaminosis is illustrated. This period corresponds to the interval between the moment when deficiency stimulus starts operating and the moment when its effect, that is the picture of avitaminosis, appears. The latency time is not measurable, on account of the difficulties in establishing the onset of the deficiency stimulus; generally it is very long and is followed by the period of biochemical symptomatology and subsequently by the one of clinical symptomatology. Each of these three phases can be further divided in several steps, which have summarized in a Table. The last chapter is dedicated to the classification of avitaminoses. From the etiopathogenetic point of view avitaminoses can be due to: a) deficiency of introduction (alimentary level)); b) deficiency of absorption (enteric level); c) deficiency of utilization (tissue level). From the clinical point of view avitaminoses can be distinguished in deficiency with: a) a complete clinical symptomatology (scurvy, beriberi, pellagra, rickets, osteomalacia, xerophthalmia, hemeralopia); b) an incomplete clinical symptomatology (mono- or oligo-symptomatic or partial clinical picture); c) a biochemical symptomatology only (subclinic or clinically asymptomatic picture).

Age Factors↗
PubMed1984

[Historical milestones in the treatment of night blindness].

Most cases of night-blindness (nyctalopia or hemeralopia) do occur without an apparent organic eye-disease. In the past one spoke of essential or epidemic night-blindness. It is caused by a vitamin deficiency, and is a result of failing dark adaptation; it may lead to xerophthalmia, and finally to a complete permanent blindness, if not treated in time with vitamin A or vitamin A containing food (butter, egg-yolk, fish-liver oil). From time immemorial the healing effects of the intake of liver from fish and various animals for night-blindness has been reported from countries all over the world. In medical literature it has been recommended in the Papyrus Ebers (ca. 1500 B.C.), by the old Greek writers, from Hippocrates to Galen, and later to Oribasius and others. In the early sixteenth century Jac. Bontius (1592-1631) learned this therapy from empiric folk-medicine and advocated shark-liver as a specific medicine. Notwithstanding scattered reports of the dramatic favourable result of liver-treatment in patients with night-blindness, it would last until experimental research with a fat-poor diet led to the discovery (1913) and identification of vitamin A in our century, and the high vitamin A content of liver was established. Thus recognizing the value of the old liver-treatment, finally vitamin A was introduced in official ophthalmology. So an age-old, nearly universal favourable experience of empiric medicine had been neglected to the detriment of countless sufferers of night-blindness. Today systematic administration in cases of impending blindness, especially in some Asiatic areas, has already prevented the development of lasting blindness on a large scale.

Europe↗
PubMedDate not supplied

[Wolfram's syndrome. Presentation of a case].

The association of insulin-dependent diabetes mellitus (IDDM) and progressive optic atrophy, occasionally associated with other disorders, is known as Wolfram syndrome. Here is reported the case history of a 14 years old girl who presented IDDM, progressive optic atrophy, hearing loss, disturbed colour vision, hemeralopia and retarded sexual maturation.

Adolescent↗
PubMed1982

[Hereditary features of progressive retinal atrophy (PRA) and its consequences in dog-breeding (author's transl)].

Progressive retinal atrophy (PRA) is a collective term comprising a group of hereditary degenerative lesions of the retina. A central and a generalized form can be differentiated. The central form (day blindness, hemeralopia) is characterized by accumulations of pigment in the layer of pigmented epithelium of the retina, atrophy of the cones and subsequent atrophy of the rods, eventually terminating in blindness. The generalized form (night blindness, nycteralopia) is marked by dysplasia of the rods and or cones, followed later by atrophy of the rods and cones, or it may be marked solely by atrophy of the rods and cones. Blindness occurs between the first and seventh years of life, varying with the breed and form. Hereditary transmission of the generalized form is recessive. Detection of patients is essential in controlling the disease. The number of carriers can be estimated on the basis of this detection, part of the carriers can be identified and the likelihood of an animal being a carrier can be calculated. The condition may be controlled by test matings to determine the genetic patterns of breeding dogs where progressive retinal atrophy is concerned.

Animals↗
PubMedDate not supplied

[Complications of photocoagulation for diabetic retinopathy].

Photocoagulation of diabetic retinopathy may provoke a number of complications. Some of them result from technical errors and can be prevented. Others may occur even if the treatment is performed by an experienced ophthalmologist. Anterior segment complications such as corneal or lenticular burns are unfrequent. Most of the complications occur in the retina. The accidental photocoagulation of the fovea is the result of a technical error. Other complications such as increased macular oedema or haemorrhages can usually be avoided by using appropriate techniques. Colour vision alterations, increased perimetric deficits or hemeralopia are often unavoidable in panretinal photocoagulation for proliferative diabetic retinopathy.

Cornea↗
PubMed1993

[The Kearns-Sayre syndrome].

The paper describes Kearns-Sayre's syndrome, a rare hereditary neuromuscular disease, in a patient aged 17 years. The clinical picture of the disease had a classical triad: external ophthalmoplegia, pigmentary retinopathy, and cardiac conduction disturbances. This triad was supplemented with other polymorphous symptoms characteristic of the syndrome, such as moderate myopathic syndrome, hemeralopia, physical infantilism, hypogonadism, pyramidal syndrome. Bifascicular block in the His-Purkinje system was accompanied by mitral prolapse. The problems of early diagnosis of the syndrome and choice of adequate therapeutical methods are discussed.

Adolescent↗
PubMedDate not supplied

[Sectorial retinitis pigmentosa and acoustic neurinoma].

The case of a 56-year-old female patient is presented; she was hospitalized for decreased vision of both eyes, discrete hemeralopia, vertigo, right hypoacusis and occipital headache. The eye fundus examination showed lesions of retinitis pigmentosa in the inferotemporal sector and decreased arterial calibre. The patient was diagnosed neurologically as a right acoustic neurinoma with pontocerebellar syndrome. No other cases with the same symptomatology were noticed in the patient's family.

Cerebellar Diseases↗
PubMed1998

Foveal cone dysfunction syndrome.

Our objective was to describe and expand the clinical spectrum of a rarely detected, previously reported photoreceptor disorder restricted to the foveal cones. Three patients with bilaterally decreased acuity and hemeralopia were examined to exclude a structural, vascular, inflammatory, or degenerative process. Each patient underwent a full neuroophthalmic examination, including full-field and focal cone electroretinogram (ERG). All three patients had normal-appearing fundi, mild dyschromatopsia, central or paracentral visual field depressions, normal full-field photopic and scotopic ERGs, and markedly reduced focal, foveal cone ERG responses. One patient had a ring scotoma and an asymptomatic family member with abnormal full-field and focal cone ERG. The syndrome of acquired foveal cone dysfunction presents as a bilateral, painless, progressive central visual loss with minimal or absent fundus changes. It eludes diagnosis until focal, foveal cone ERG is performed.

Aged↗