Pigmentary Retinitis Research Articles

P1824RETROSPECTIVE STUDY FOR THE ANALYSIS AND EVOLUTION OF RENAL FUNCTION IN A COHORT OF PATIENTS AFFECTED BY THE NEPHRONOPHTHISIS COMPLEX

Abstract Background and Aims Determine evolution of renal function in nephronophthisis patient cohort, prognosis and variability of clinical presentation. Method Retrospective observational study to determine evolution of renal function in our cohort(n=13) between 4.5-20 years affected by different syndromes associated with nephronophthisis complex in last 20 years. We compared clinical-analytical parameters to diagnosis with current ones, including needs for kidney transplantation and results of genetics. Results Chronic-Kidney-Disease (CKD) prevalence at diagnosis was between 0.9-8.5 years (mean 5.3 years), staging of CKD was: 30.7% stage 2, 15.38% stage 3a and 1 patient stage 3b. 23.07% in stages 4 and 5. 69.23% needs first kidney transplantation and even a second one 15.38%. The average age at first transplantation was 6.04 years(2-11.67 years). The mean age to enter in renal replacement therapy program was 1.3 years(0.1-3.67 years). Among non-transplant, from diagnosis to present its being 0.5-7.25 years(median, 4.24 years). Most frequent symptom at the onset of the disease was delay in weight gain and height(84.61%) and also in cognitive development(53.84%), followed by polyuria-polydipsia(46.15%) and other signs/symptoms such as ataxia, pigmentary retinitis, hepatic insufficiency or skeletal alterations. In fact, in up to 54% of cases, renal involvement was a casual finding. Even with this, the most frequent form of presentation was purely renal(38.46%), followed by Joubert's Syndrome(30.77%), RHYNS(15.38%), Senior-Loken(7.7%) and Maizner-Saldino(7.7%). Currently, calculated glomerular filtration rate ranges between30.2-90.21 ml/min/1.73 m2 among recipient, with majority in the CKD stages: 3a(56%) and in between 30-128 ml/min/1.73 m2 among non-transplant patients, with predominance CKD 2 (50%). Conclusion The prognosis of renal function in the short-medium term in nephronophthisis is unfortunate. The possible initial symptomatic renal silence, the need (>50%) of multidisciplinary management and the frequency of CKD advanced to the diagnosis make necessary the knowledge of the disease and its possible associations, as well as its active search.

Permanent visual work disabilities: 321 cases review

Abstract Introduction Visual diseases are the fifth more frequent cause of labour permanent disability, what represents 4% of the total of them. In order to assess these cases we must take in account on one hand the visual requirements of each profesion, and on the other hand the visual functional impairments that the worker is suffering. Special attention must be paid to situations of legal blindness and low vision, as a cause of serious disabilities. Despite the importance of the matter, we have hardly found any reviews about it in the consulted bibliography. Materials and Methods We have carried out a retrospective research of 321 disability claims due to ocular causes, assessed at the Ophthalmology Section of the Forensic Medical Clinic of Madrid, in the last 18 years. They account for 3% of the total disability claims raised in our field. Results The most frequent professions involved have been administrative services, construction, hotel workers, cleaning and professional drivers. In 90% of cases these professional activities had medium or low visual requirements. The plaintiff in 40% of cases was unemployed. The most frequent visual pathologies we found out were myopic complications (especially myopic maculopathy) 17%, and eye trauma (16%). To a lesser extent: retinal detachment (12%), optic neuritis (7%), glaucoma (6%), diabetic retinopathy (6%), pigmentary retinitis (4%), non-myopic maculopathies (2%) and melanomas (2%). In 23% of cases no significant visual limitation was found (it was lower than 33%). Out of these, 9% were diagnosed as NOVL (non-organic visual loss), 3% of them being very obvious cases of simulation. Conclusions In 82% of the cases the expert’s report pointed out a significant global (visual and non-visual) functional limitation (greater than 33%) of their work capacity. In the previous administrative phase of all these cases the recognition fo disability had not been granted. From the results obtained it turns out the importance of an ophthalmologist acting as an expert in this type of demands.

Genetic Types of Inheritance of Retinal Pigment Abiotrophy in Patients Living in “Closed” Communities in the Republic of Buryatia

Retinal pigment abiotrophy is a hereditary disease with a primary diffuse lesion of photoreceptors and the retinal pigment epithelium, in which characteristic functional changes and a typical picture of the fundus with pigment bone bodies are noted. Retinal pigment abiotrophy is the most common disease of all dystrophies of the retina.Aim. To do a clinical genealogical analysis of the type of inheritance of pigmentary retinitis in residents of Tarbagatai region of the Republic of Buryatia.Material and methods. At the first stage of the study, a round between the residents of Tarbagatai region of the Republic of Buryatia was conducted by interviewing and questioning. At the second stage, people with suspected pigment retinitis and their blood relatives underwent a full ophthalmologic examination to confirm the diagnosis, and a thorough collection of genealogical information was carried out to determine the type of inheritance.Results. 20 patients were allocated from 12 families of 1237 interviewed people aged 15 to 76 years living in a closed community in the territory of Buryatia in the Tarbagatai region, 12 of them with a presumptive diagnosis of retinitis pigmentosa, with signs of Usher syndrome (retinitis pigmentosa + sensorineural hearing loss) – 8 people. In general, the analysis of 20 pedigrees with an established type of inheritance in 89.9 % of cases revealed an autosomal recessive type; in 10.1 % – autosomal dominant type of retinitis pigmentosa.Conclusion. A complete collection of genealogical history is the basis for the diagnosis of hereditary eye diseases.

First Report of a Novel Missense CLDN19 Mutations Causing Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis in a Chinese Family

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is an autosomal recessive disorder caused by mutations in the CLDN16 or CLDN19 genes, encoding claudin-16 and claudin-19 in the thick ascending limb of Henle's loop. In patients with claudin-19 mutations, severe ocular involvement (macular coloboma, pigmentary retinitis, nystagmus, or visual loss) has been described. In this report, we presented a 12-year-old girl with rickets, polyuria, and polydipsia. She was the daughter of consanguineous parents, and she had a history of recurred hypocalcemic and hypomagnesemic tetany. On physical examination, bilateral horizontal nystagmus and severe myopia were detected. Laboratory examination revealed hypomagnesemia, hypocalcemia, hypercalciuria, nephrocalcinosis, and renal stone. A clinical diagnosis of FHHNC caused possibly by claudin-19 mutation was decided with the ocular findings. DNA analysis revealed a novel homozygous missense mutation c.241C>T in the CLDN19 gene. In conclusion, in a patient with hypomagnesemia, hypercalciuria, nephrocalcinosis, and ocular findings, a diagnosis of FHHNC caused by claudin-19 mutation should be considered. This is the first study of FHHNC in Chinese population. Our findings of the novel mutation c.241C>T in exon 2 add to the list of more than 16 mutations of CLDN19 gene reported.

2073 – Retinopathy induced by zuclopentixol depot: A case report

Neuroleptics constitute an heterogeneus group of drugs used to treat mental illness. As known, long-acting depot neuroleptics receive increasing consideration in the maintenance treatment of individuals diagnosed of schizophrenia with low insight or poor treatment adherence. Zuclopentixol depot is a typical antipsychotic agent. It operates through a mechanism of extended release. It is characterized by antagonizing Dopamine receptors, particulary D2. It also works on alfa1 adrenergic and serotonine 2A receptors. Its effect on histamine H1 receptors is weak, and presents no affinity with cholinergic receptors. The literature reports ocular disorders due to treatment with neuroleptics. Typical antipsychotic can induce degenerative retinopathy which histologically and clinically simillar to primary pigmentary retinitis. Nevertheless, after showing initial interest, clinicians and researches no longer paid enough attention to them. Most of the cases reported are related to Phenotiazine antipsychotic family. Phenotiazines bind to melanin granules and can cause a severe phototoxic retinpathy. We have not found retinal disorders caused by Zuclopentixol in the literature reviewed. Pathogenis involved in retinopathia induced by neuroleptics is still unknown. Neuroleptics operate through a mechanism based on the antagonism of dopaminergic receptors. This blockade may influence the genesis of retinopathy. Several hypothesis emphasized in how neuroleptics, by antagonizing dopaminergic receptors, can influence melanine absortion in the uveal track and choroid. This is the reason why there could be a relation between antidopaminergic mechanism and choroid through the vascular supply.

Ataxia espinocerebelosa tipo 2 asociada a retinitis pigmentosa

Ocular disorders are useful in the characterisation of the different types of spinocerebellar ataxias (SCA); pigmentary retinitis is an alteration that is specifically associated to SCA type 7 and is characterised by night blindness, sensitivity to glare and progressive narrowing of the visual field.A 34-year-old woman with clinical symptoms of progressive ataxia and visual impairment secondary to pigmentary retinitis. The patient had a personal history with an autosomal dominant pattern of a similar disorder in her father and paternal grandmother. In the genetic study she presented a triplet expansion in the SCA type 2 gene. CONCLUSIONS; Although pigmentary retinitis belongs to the SCA type 7 phenotype, our patient presented this retinal disorder, as in other cases of SCA type 2. A genetic study for SCA type 2 must therefore be conducted in patients with a degenerative ataxic clinical picture and who present evidence of pigmentary retinitis.

Touretismo, hemibalismo y parkinsonismo juvenil: expandiendo el espectro clínico de la neurodegeneración asociada a deficiencia de pantotenato cinasa (síndrome de Hallervorden­Spatz)

Pantothenate kinase deficiency (Hallervorden-Spatz syndrome, HSS) triggers cerebral neurodegeneration with iron deposition in the basal ganglia. The classical form has an early onset in infancy, a progressive course, the presence of extrapyramidal symptoms (dystonia, chorea, rigidity) and pigmentary retinitis. There are atypical late onset forms with predominance of symptoms of Parkinsonism and dementia, which progress slowly and course somewhat less progressively. We describe three patients with HSS and an atypical presentation, with onset during the second decade of life. In all cases magnetic resonance imaging showed areas of hyposignal in T2 sequences in medial globus pallidus, with central hypersignal, which gave rise to a tiger's eye image. Other aetiologies, such as Wilson's disease, gangliosidosis GM1, hypoprebetalipoproteinemia, hexosaminidase A deficiency, aminoacidurias and infantile Huntingdon's chorea, were precluded. In the 20-year-old male the initial manifestations at the age of 17 were superposed over Gilles de la Tourette syndrome, with complex motor and vocal tics, palilalia, behavioural disorders and postural instability. The 13-year-old patient presented symptoms of chorea, hemiballic movements and dystonia in the lower limbs, which limited walking at the age of 12. The 28-year-old female patient presented a progressive rigid akinetic syndrome, with dementia and partial response to levodopa. The clinical spectrum of HSS is broad and its differential diagnosis must include hemiballism, Tourette syndrome and juvenile Parkinsonism.

McKusik-Kaufman syndrome: prenatal diagnosis, genetics and follow up.

McKusick-Kaufman syndrome (MKKS) is a rare autosomal recessive genetic disease with classical hexadactyly and hydrocolpos in females and sometimes cardiac abnormality. We report such a case diagnosed just before birth with a favourable outcome. From this case we describe and discuss all the prenatal sonographic signs which are not always present. On the genetic side, the gene has recently been localized together with the mutation responsible for MKKS. The phenotypic relationship between MKKS which has a good prognosis and Bardet-Biedl syndrome (BBS) with a worse prognosis requires great caution before diagnosing MKKS and a long follow-up is necessary to recognize obesity, growth retardation and pigmentary retinitis.

RESULTS OF STELLECTOMY IN THE TREATMENT OF PIGMENTARY RETINITIS

In September 1933 I presented, in collaboration with Drs. Malbran and Balza, before the Society of Ophthalmology of Buenos Aires 1 the results that we had obtained for the first five patients with pigmentary retinitis treated by stellectomy; later, in 1934, in another publication, 2 we reported on a total of twelve patients with pigmentary retinitis treated by this method (the first five being included) and summed up the effects of the operation. The time that has gone by since the operation in these cases, the favorable change in many of these patients and the undoubted benefits following this operation in additional cases have encouraged us to dwell once again on the subject so as to draw the attention of specialists to the value of stellectomy in the treatment of pigmentary retinitis. The indifference and doubts of ophthalmologists in regard to the practical value of operations on the sympathetic nervous

UNILATERAL PIGMENTARY RETINITIS

Among various diseases of the retina, pigmentary degeneration was always considered one of the best outlined clinical entities. The ophthalmoscopic appearance of this disease, the changes in the visual fields, the state of adaptation and even the histopathologic observations, whenever they were available, presented little difficulty in diagnostic interpretation. However, with the introduction of finer methods of clinical investigation and with the accumulation of larger clinical experience, some atypical and rudimentary forms of pigmentary retinitis became known. Then new problems requiring further investigation came into existence. An unusual variation of pigmentary retinitis, its unilateral form, was first reported as early as 1865 (Pedraglia1). So rare, however, was the unilateral occurrence of this disease that fifty years after the first report Leber2could find only fourteen similar cases in the literature. Of these, several were excluded because they seemed unreliable. It is not surprising under these circumstances