Molecular genetic cause of achromatopsia in two patients of Czech origin.

INTRODUCTION: Achromatopsia is an autosomal recessive retinal disorder with an estimated prevalence ranging from 1 in 30.000 to 50.000. The disease is caused by mutations in six different genes. The aim of the study was to perform molecular genetic analysis in 11 unrelated probands with a clinical diagnosis of achromatopsia and to describe clinical findings in those that were found to carry biallelic pathogenic mutations. METHODS: All probands and their parents underwent ophthalmic examination. Mutation detection was performed using Sanger sequencing of CNGB3 exons 6, 7, 9-13, which have been found to harbour most disease-causing mutations in patients with achromatopsia of European origin. RESULTS: Three known pathogenic variants in CNGB3 were identified in 2 probands. Proband 1 was a compound heterozygote for the c.819_826del; p.(Arg274Valfs*13) and c.1006G>T; p.(Glu336*). Proband 2 carried the c.1148del; p.(Thr383Ilefs*13) in a homozygous state. The best corrected visual acuity in proband 1 (aged 19 years) was 0.1 in both eyes, in proband 2 (aged 8 years) 0.05 in the right eye and 0.1 in the left eye. Both individuals had nystagmus, photophobia, and absence of colour discrimination. Fundus examination appeared normal however spectral-domain optical coherence tomography revealed subtle bilaterally symmetrical structural changes in the fovea. CONCLUSION: Molecular genetic analysis of Czech patients with achromatopsia was performed for the first time. Identification of disease-causing mutations in achromatopsia is important for establishing an early diagnosis, participation in clinical trials assessing gene therapies and may be also used for preimplantation genetic diagnosis.

Recommended procedure for eye examination for infants and children of pre-school age in regular outpatient practice.

Recommended procedure for eye examination for infants and children of pre-school age in regular outpatient practice.

[What should the pediatrician know about retinopathy of prematurity?]. / Co by mel pediatr vedet o retinopatii nedonosených detí.

The paper is concerned with the practical aspect of the problem of retinopathies of premature babies (ROP) from the aspect of collaboration of the child ophthalmologist and paediatrician. The paper provides basic information pertaining to contemporary possibilities of prevention and treatment of ROP, some late sequelae and their possible correction. The conclusions which ensure are the result of a confrontation of the author's experience and data in the literature.

[Retinopathy of prematurity over 3 decades]. / Nekolik pohledu na retinopatii nedonosených detí v prubehu trí desetiletí.

The authors give an account of 190 premature infants they treated in 1956-1988, suffering from retinopathy of prematurity--ROP, and for prolonged subsequent periods. As the head of the team followed up all the children, there is an integrated view of the problem. The birth weight of the infants was 640 g--1,900 g. From the total number 76.8% infants had a birth weight of 1,500 g or less, 13.7% had a birthweight of 1,000 g or less. Evidence of the increasing rate is provided by the number of patients treated since birth at the department for premature and pathological infants FNM as well as by the number of children admitted from other departments after development of ROP. In 1956-1970, i. e. in 15 years, the authors looked after 34 patients, in 1971-1988, i. e. in 18 years there were 156 children with ROP. In 1956-70 cases of ROP predominated which developed as a result of absolute or relative hypoxia. They were successfully treated by individually adjusted and carefully controlled oxygen therapy (6.9% blind children). In 1971-1975 the possibility to use this therapy declined briskly because after introduction of modern medical technique the number of findings suggesting a hyperoxic insult increased. At that time the results deteriorated greatly (50% blind children). In 1976-1980 the results were favourably influenced by individual dosage of oxygen therapy in all infants, based on regular monitoring of blood gases (10.5% blind children).(ABSTRACT TRUNCATED AT 250 WORDS)

[Cryocoagulation in the treatment of retinopathy of prematurity]. / Kryokoagulace v lécbe retinopatie nedonosených.

The authors give an account on cryotherapy of retinopathies in the premature--130 eyes of 93 children treated during 1984-1988. Almost in all children cryocoagulation was made, using a transconjunctival approach, in the avascular periphery of the retina under local instillation anaesthesia. Twenty-eight eyes were coagulated already in stage 2 of the proliferative phase (along with the other more severely affected eye), the results being very satisfactory. In this stage, however, spontaneous regression cannot be ruled out. This is the reason why only 102 eyes were evaluated in detail, i.e. those coagulated in stage 3a and the latter were compared with findings in 90 eyes equally affected where cryocoagulation was not performed. In the group after coagulation 51% of the eyes had findings in stage I and II of the cicatricial phase with good and very good vision, in 17.6% the final finding is stage III with vision in the zone of visual debility and 31.4% of the eyes with findings stage IV and V are blind. In the group without coagulation there were 4.4% eyes in stage I and II, 28.9% eyes in stage III and 66.7% in stages IV and V. In eyes after coagulation the percentage of adverse results (31.4%) is by one half lower than in untreated eyes (66.7%).