Maria Frasson

Benefit of against-the-rule astigmatism to uncorrected near acuity

Purpose: To determine whether with‐the‐rule (WTR) or against‐the‐rule (ATR) astigmatism gives a better visual outcome after cataract and intraocular lens (IOL) implantation surgery by comparing the uncorrected distance and near visual acuities in eyes with low, simple, myopic residual astigmatism. Setting: S. Geraldo Eye Hospital, Federal University of Minas Gerais, Belo Horizonte, Brazil. Methods: Two groups of 10 eyes each, one with WTR and the other with ATR simple, myopic astigmatism, were studied after uneventful cataract and IOL implantation surgery. All patients had an uncorrected distance visual acuity of 20/40 or better. The negative cylinder ranged from 1.00 to 1.50 diopters (D). The uncorrected distance and near visual acuities of the two groups were compared. Results: There was no statistically significant between‐group difference in uncorrected distance visual acuity. However, for uncorrected near, the difference between groups was highly statistically significant (P < .001). Patients with ATR astigmatism had much better uncorrected near acuity than those with WTR astigmatism. Conclusion: In pseudophakia, low, simple, ATR myopic astigmatism is better than WTR astigmatism because it provides superior uncorrected near visual acuity.

Possible involvement of a fibroblast growth factor 9 (FGF9)–FGF receptor-3-mediated pathway in adult pig retinal ganglion cell survival in vitro

The expression and potential roles of fibroblast growth factors (FGF) and their cognate FGF receptors (FGFR) in adult mammalian retinal ganglion cells (RGC) are poorly known. We show that FGFR-3 and FGFR-4 are especially pronounced on RGC and amacrine cell bodies in adult pig inner retinae both in vivo and in vitro. Western blotting revealed distinct profiles for each receptor. Expression of each FGFR and effects of the preferred ligand for FGFR-3, FGF9, upon RGC survival and neurite outgrowth were examined in primary retinal cell cultures: whereas there was no stimulation of neuritogenesis, RGC survival was promoted in a dose-dependent manner (ED(50) approximately 500 pg/ml, mean maximal increase of 60%) and could be completely blocked by addition of FGF9 neutralising antibody. Experiments with three additional FGF (FGF1, FGF2, and FGF4) showed no stimulation of RGC survival above control levels. Taken together, these data suggest that the ligand-receptor couple FGF9-FGFR-3 may function to promote survival of adult mammalian RGC, and their application might be beneficial in retinal degenerative diseases such as glaucoma.

Oculodentodigital dysplasia: study of ophthalmological and clinical manifestations in three boys with probably autosomal recessive inheritance

Oculodentodigital dysplasia (ODDD) is a rare inherited disorder affecting the development of the face, eyes, teeth, and limbs. The majority of cases of ODDD are inherited as an autosomal dominant condition. There are few reports of probable autosomal recessive transmission. Affected patients exhibit a distinctive physiognomy with a narrow nose, hypoplastic alae nasi, and anteverted nostrils, bilateral microphthalmos, and microcornea. Sometimes iris anomalies and secondary glaucoma are present. There are malformations of the distal extremities such as syndactyly. In addition, there are defects in the dental enamel with hypoplasia and yellow discoloration of the teeth. Less common features include hypotrichosis, intracranial calcifications, and conductive deafness secondary to recurrent otitis media. We describe three brothers with ODDD. Their parents are first cousins and present no features of ODDD. These data are in favor of autosomal recessive inheritance and suggest genetic heterogeneity for this entity.

A New Case of Keratoconus Associated with Williams-Beuren Syndrome

ABSTRACT Background: Williams-Beuren syndrome is a multisystemic genetic disorder caused by a contiguous gene deletion at 7q11.23. Keratoconus is a complex disease and it is suspected to have a genetic origin, although the specific gene responsible for keratoconus has not been identified. Although there are several ocular features in Williams-Beuren syndrome, keratoconus is not regularly described as part of this syndrome. Purpose: To report a new patient with keratoconus and Williams-Beuren syndrome. Discussion: This is the third case of an association between Williams-Beuren syndrome and keratoconus. The authors believe that the Williams-Beuren syndrome chromosome region can be a possible target for further investigation as the genetic basis of keratoconus.

Cisto vítreo e retinose pigmentária: relato de caso

Vitreous cyst is a rare condition of the posterior segment of the eye. It can occur in eyes with coexistent ocular diseases or in eyes that are otherwise normal. This study reports a case of vitreous cyst in a patient with retinitis pigmentosa and presents its clinical and ultrasonographic features.

Retinose pigmentar unilateral ou pseudorretinose pigmentar?: relato de caso

Unilateral retinitis pigmentosa is a rare disease characterized by loss of photoreceptors and retinal pigment deposition without affecting the contralateral eye. Although described more than one hundred years its existence is still questioned. This article reports a case of a patient with abnormalities suggestive of unilateral retinitis pigmentosa. The clinical and complementary examinations are discussed.

Efeitos cardiovasculares e midriáticos da fenilefrina tópica a 2,5 e a 10,0% em voluntários sadios

OBJETIVO: Comparar os efeitos cardiovasculares e midriaticos da fenilefrina topica nas concentracoes de 2,5 e 10,0%. METODOS: Ensaio clinico do tipo caso controle, randomizado, com auto-emparelhamento. Foram monitoradas a frequencia cardiaca (FC), a pressao arterial (PA) e a midriase em voluntarios sadios, com idade entre 18 e 45 anos, apos a instilacao da fenilefrina a 2,5 e a 10,0% em duas ocasioes diferentes. RESULTADOS: A amostra foi constituida de 28 voluntarios, sendo 17 do sexo masculino e 11 do sexo feminino, com a idade media de 26,5 anos. Nao foi verificado nenhum padrao de mudancas com relacao a frequencia cardiaca e a pressao arterial sistolica. Com relacao a pressao arterial diastolica media dos individuos, nao foi encontrada variacao significativa apos a instilacao da fenilefrina a 2,5% nos tempos de um, cinco, dez e 30 minutos, o que se revelou bem diferente quando do uso da fenilefrina a 10,0%, com a qual houve aumento da pressao arterial diastolica media apos cinco e dez minutos, e subsequente queda apos 30 minutos, porem sem significância estatistica. A midriase foi maior com a fenilefrina a 10,0% nos dois olhos, sendo a diferenca estatisticamente significativa. CONCLUSOES: Observou-se maior efeito midriatico da fenilefrina a 10,0%, quando comparada a 2,5%, com significância estatistica. Ja com relacao aos efeitos cardiovasculares nao houve diferenca estatistica entre as duas concentracoes.

Spectral-Domain Optical Coherence Tomography Findings in Neurofibromatosis Type 2.

PURPOSE Neurofibromatosis type 2 (NF2) is an autosomal-dominant disease, characterized by bilateral vestibular schwannomas, multiple central nervous system (CNS) tumors, skin tumors, and juvenile cataract. The present study assessed retinal abnormalities using spectral-domain optical coherence tomography (SD-OCT) in a case series of NF2 patients. METHODS Nine NF2 patients from the neurofibromatosis outpatient reference center of the Federal University of Minas Gerais, in Brazil, were submitted to a complete anamnesis and a detailed ophthalmic evaluation, including SD-OCT, to detect retinal lesions. RESULTS Of the nine NF2 patients evaluated, five had an early onset (<20 years) of NF2, and four patients had a late onset (>20 years) of symptoms. SD-OCT scans revealed retinal abnormalities in every patient with early onset (EOS) and in two patients with late onset (LOS) of the disease. In the EOS group, SD-OCT scans revealed flame-shaped epiretinal membranes (ERM) with peculiar characteristics in four eyes of three patients. Two patients had fine undulations of the inner retinal surface with a subtle ERM. Retinal hamartomas were present in four eyes of three patients with EOS; in two eyes, they were subclinical and were detected only by SD-OCT scans. In two patients with LOS and one patient with EOS, SD-OCT scans revealed retinal tufts of a nerve fiber layer. CONCLUSIONS SD-OCT revealed ERM in most patients with NF2, therefore it may be a valuable exam for evaluating NF2 patients. Epiretinal membranes in NF2 has unique features, distinguishing it from idiopathic ERM or membranes associated with other diseases. We suggest that flame-shaped ERM seems to be specific for NF2 and that ERM can be considered as an important diagnostic sign of NF2.

Ocular Features in 16 Brazilian Patients with Williams-Beuren Syndrome

Abstract Objectives: Williams-Beuren Syndrome (WBS) is a multisystem disorder caused by the deletion of contiguous genes on chromosome 7q11.23. Ophthalmologic abnormalities and deficits in visual motor integration are important features of WBS. Here we describe our experience with Brazilian WBS patients and their ophthalmologic features. Methods: Sixteen patients with confirmed WBS went through thorough ophthalmologic examination. Results: The most frequent ocular findings in our group of patients were stellate iris pattern (81.2%), hyperopic astigmatism (50%), hyperopia (37.5%), tortuosity of retinal vessel (37.5%) and strabismus (18.7%). Conclusions: This is the second report of ophthalmologic abnormalities in a group of Brazilian individuals with WBS. It is extremely valuable that specific populations are studied so that clinical diagnosis can be refined and management of patients can be driven to the most common presentations of the disease.

Estudo clínico e padrão de herança em pacientes com retinose pigmentar

OBJECTIVE: To make an epidemiological analysis of patients with retinitis pigmentosa (RP), characterizing clinical aspects of the disease and the pattern of inheritance found in the population studied, according to the presence or not of Usher Syndrome. METHODS: 155 patients with RP were studied and the sample was divided into two groups: group 1 (n = 130) with patients diagnosed with classical RP not associated with systemic symptoms; and group 2 (n = 25) with patients diagnosed with Usher syndrome (USH). We characterized clinical aspects of the disease (sex, age, ocular symptoms, visual acuity and anterior and posterior segment changes) and the pattern of inheritance. Data were obtained through medical history, complete ophthalmic examination and complementary exams (manual visual field, electroretinogram, retinography and fluorescent angiography) for the period of February 2003 to December 2009. We used SPSS version 13.0 for statistical data analysis. RESULTS: The autosomal recessive inheritance was the most commonly found (76.2% in group 1), but in greater proportion than that of other studies. A smaller number of cases with X-linked recessive pattern (1.5%) was also noted in group 1. There was no statistically significant difference between the clinical characteristics of the two groups. CONCLUSION: The pattern of inheritance found in patients with classical RP was similar to that found in other studies. Clinical characteristics were similar in both groups.