Surgical treatment outcomes in heavy eye syndrome - a case series.

Results: The study cohort comprised five patients, each presenting with unilateral high axial myopia and classic clinical features of HES, including large angle esotropia, hypotropia, and restricted abduction and supraduction. All patients displayed evident superotemporal globe prolapse on MRI imaging, corresponding to the downward displacement of the LR muscle and medial shift of the SR muscle.Following the surgical procedure, all patients demonstrated significant improvements in both vertical and horizontal deviations, effectively addressing the primary clinical manifestations of HES.Conclusions: In the management of HES, several surgical approaches have been explored, yielding mixed results. Our study, employing the technique of partial muscle splitting and scleral fixation, offers a promising avenue for effectively addressing this challenging condition. By adapting the full loop myopexy technique originally proposed by Yokoyama et al. we achieved satisfactory ocular alignment in all five patients. Notably, this approach mitigates the risk of anterior segment ischemia by preserving the unsecured portions of the SR and LR muscles along with MR retroequatorial myopexy.These findings support the consideration of this surgical technique as a safe and effective option for managing HES, providing both cosmetic and functional improvements to afflicted individuals.

Sodium Channel Myotonia and a Novel Gly701Asp Mutation in the SCN4A Gene: From an Ophthalmological Symptom to a Familial Disease.

A six-month-old female child came to an ophthalmology consultation because of a convergent strabismus, myotonia of the orbicularis muscles and difficulty walking in cold environments. Further investigation identified a family history of muscular myotonia in the father, grandmother and uncle. The father also presented with ocular myotonia. The child and family members underwent genetic testing, which was negative for CLCN1 mutations but was positive for a novel heterozygotic Gly701Asp mutation in the SCN4A gene, compatible with sodium channel myotonia. The non-dystrophic myotonias are caused by dysfunction of key skeletal muscle ion channels. Before the advent of DNA sequencing, non-dystrophic myotonias were differentiated based on clinical phenotypes. Sodium channel myotonia disorders are classically of dominant inheritance, in which eye closure myotonia is the most frequent manifestation. Over 40 different mutations have been reported in the SCN4A gene. The Gly701Asp mutation in exon 13 identified in this family has not been described before.

Congenital Horner and Scimitar syndrome in a newborn: a previously unreported combination.

Here we report a case of a term newborn presenting with left palpebral ptosis, anisocoria and heterochromia as well as cleft palate and heart murmur. Congenital Horner syndrome was suspected and a thoracoabdominal CT scan was performed to rule out neuroblastoma. This revealed an anomalous drainage of right pulmonary veins to a collector that drains to the inferior vena cava, leading to the diagnosis of Scimitar syndrome. Echocardiogram showed an ostium secundum atrial septal defect, enlarged right chambers and a dilated coronary sinus due to a persistent left superior vena cava. The combination of Horner and Scimitar syndrome has never been described before. This case should encourage clinicians to use a multidisciplinary approach in order to guarantee an adequate diagnosis and management.

Ophthalmologic Manifestations of Wolfram Syndrome: Report of 14 Cases.

PURPOSE: The aim of this study was to describe ophthalmological abnormalities in 14 cases of Wolfram syndrome belonging to 9 different families. METHODS: Patients were submitted to a complete ophthalmological, neurological, otorhinolaryngological, urological, and genetic evaluation. RESULTS: Our sample comprised 14 Caucasian patients belonging to 9 different families. Their ages ranged from 10 to 38 years. The mean duration of known disease was 11.3 ± 8.7 years. Genetic confirmation was obtained in 7 families. There was a parental consanguinity history in 2 families. Five families were homozygous for a mutation of exon 8 of the WFS1 gene (Chr. 4), and 2 patients were heterozygous. Diabetes mellitus was the first manifestation in all except 1 patient. The mean age at diagnosis was 8.7 years (range 3-22). None had diabetic retinopathy. The mean age at diagnosis of optic atrophy was 11.1 years (range 8-35). The best-corrected visual acuity ranged from counting fingers to 20/50. CONCLUSIONS: Association of optic atrophy with insulin-dependent diabetes mellitus should raise the suspicion of Wolfram syndrome.

[Pediatric Cataracts: A Retrospective Study of 12 Years (2004 - 2016)]. / Cataratas em Idade Pediátrica: Estudo Retrospetivo de 12 Anos (2004 - 2016).

INTRODUCTION: Cataracts are a major cause of preventable childhood blindness. Visual prognosis of these patients depends on a prompt therapeutic approach. Understanding pediatric cataracts epidemiology is of great importance for the implementation of programs of primary prevention and early diagnosis. MATERIAL AND METHODS: We reviewed the clinical cases of pediatric cataracts diagnosed in the last 12 years at Hospital Pedro Hispano, in Porto. RESULTS: We identified 42 cases of pediatric cataracts with an equal gender distribution. The mean age at diagnosis was 6 years and 64.3% of patients had bilateral disease. Decreased visual acuity was the commonest presenting sign (36.8%) followed by leucocoria (26.3%). The etiology was unknown in 59.5% of cases and there was a slight predominance of nuclear type cataract (32.5%). Cataract was associated with systemic diseases in 23.8% of cases and with ocular abnormalities in 33.3% of cases. 47.6% of patients were treated surgically. Postoperative complications occurred in 35% of cases and posterior capsular opacification was the most common (25%). DISCUSSION: The report of 42 cases is probably the result of the low prevalence of cataracts in this age. Although the limitations of our study include small sample size, the profile of children with cataracts in our hospital has characteristics relatively similar to those described in the literature. CONCLUSION: Given the high proportion of idiopathic pediatric cataracts, prevention of the disease remains a challenge worldwide.

Introdução: As cataratas são consideradas uma das principais causas de cegueira evitável em idade pediátrica. O prognóstico visual destas crianças depende de uma abordagem terapêutica atempada, sendo fundamental o conhecimento da sua epidemiologia para a implementação de programas de prevenção primária e diagnóstico precoce das cataratas. Material e Métodos: Analisámos os processos clínicos de doentes com cataratas diagnosticadas em idade pediátrica, nos últimos 12 anos, no Hospital Pedro Hispano, Porto. Resultados: Foram diagnosticados 42 casos de cataratas pediátricas, com igual distribuição em ambos os géneros. A média etária no momento do diagnóstico foi de seis anos e em 64,3% das crianças, as cataratas eram bilaterais. A manifestação clínica mais comum foi a diminuição da acuidade visual (36,8%) seguida pela leucocória (26,3%). A etiologia idiopática foi a mais frequente (59,5%), e houve predomínio das cataratas do tipo nuclear (32,5%). As cataratas associaram-se a doenças sistémicas em 23,8% dos casos e a outras anomalias oculares em 33,3% das crianças. Relativamente ao tratamento, 47,6% das crianças foram submetidas a cirurgia. As complicações pós-operatórias registaram-se em 35% das crianças, sendo a opacificação da cápsula posterior a mais comum (25%). Discussão: A descrição de 42 casos reflete, provavelmente, a baixa prevalência das cataratas nesta idade. Apesar das limitações inerentes a uma amostra pequena, o perfil epidemiológico das cataratas pediátricas, neste hospital, apresenta características similares às descritas na literatura. Conclusão: O elevado número de cataratas de etiologia idiopática observado a nível global e neste estudo, em particular, constitui um desafio ao planeamento de estratégias de prevenção.

Factors Predictive of Success in Probing for Congenital Nasolacrimal Duct Obstruction.

PURPOSE: To report the success rate of children undergoing probing for congenital nasolacrimal duct obstruction (CNLDO) and the factors relating to the failure of the procedure. METHODS: This retrospective case series included 88 eyes of 62 patients, aged 1 to 138 months, who underwent probing between January 2008 and December 2014 in the Pediatric Ophthalmology Unit of Centro Hospitalar São João. The procedure was performed in the operating room under general anesthesia. Surgical success was defined as successful lacrimal irrigation in-traoperatively and resolution of epiphora at the follow-up visit 1 month after surgery. RESULTS: The overall success rate after first probing was 77.3% (68 of 88 eyes). No differences were found regarding age (P = .546), gender (P = .740), surgical experience (P = .611), or laterality (P = .328) between children who were cured and not cured. The surgical success rate decreased in children older than 4 years, although not to a statistically significant degree (P = .190). Surgical success after second probing was 85.7% (12 of 14 eyes), and the median interval between the two procedures was 3 months (range: 2 to 54 months). In 30% (7 of 20 eyes, 4 of 13 patients) of children with persistent obstruction, otorhinolaryngology evaluation evinced an adenoid hypertrophy requiring surgical correction. CONCLUSIONS: The success rate of nasolacrimal probing for CNLDO was not related to age, gender, laterality, or the surgeon's experience. Otorhinolaryngology evaluation is recommended for unresponsive patients. [J Pediatr Ophthalmol Strabismus. 2017;54(2):123-127.].

Isolated foveal hypoplasia: tomographic, angiographic and autofluorescence patterns.

Purpose. To report clinical aspects, tomographic, angiographic, and autofluorescence patterns of two cases of isolated foveal hypoplasia. Methods. Foveal hypoplasia was found in a 23-year-old male patient and in a 64-year-old woman with impaired visual acuity of unknown etiology that remained unchanged for years. Results. In the first case, spectral-domain optical coherence tomography (SD-OCT) showed reduced foveal pit and continuity of inner retinal layers in the fovea. Photoreceptor layer had a normal thickness centrally. The foveal avascular zone (FAZ) was absent in the flourescein angiogram (FA). Fundus autofluorescence showed reduced foveal attenuation of autofluorescence. In the second patient, there was the same pattern in SD-OCT, with normal aspect in FA and only a slightly reduced foveal attenuation of autofluorescence. Conclusion. OCT, as a noninvasive and quick method, is helpful in the diagnosis of foveal hypoplasia. FA and fundus autofluorescence were less sensitive.

Combination of intravitreal ranibizumab and laser photocoagulation for aggressive posterior retinopathy of prematurity.

PURPOSE: To report on 2 cases of aggressive posterior retinopathy of prematurity (ROP) treated with intravitreal ranibizumab (Lucentis(®)) and laser photocoagulation. METHODS: Two premature females, born at 25 and 26 weeks' gestation with a birth weight of 530 and 550 g, respectively, with aggressive posterior ROP received combined treatment with laser photocoagulation and intravitreal ranibizumab (0.3 mg [30 µl]) to each eye. Structural outcomes were evaluated by indirect ophthalmoscopy and documented by retinography. RESULTS: An intravitreal injection was made at 34 weeks of postmenstrual age in the first case, followed by laser photocoagulation 1 week later. There was a partial regression of ROP with treatment. Five weeks later, neovascularization regrowth with bleeding in both eyes (intraretinal and subhyaloid) occurred and retreatment with combined therapy was performed. In the second case, single therapy with laser photocoagulation was made at 34 weeks of postmenstrual age. In spite of the confluent photocoagulation in the avascular area, progression to 4A ROP stage occurred 1 week later. Both eyes were retreated 1 week later with intravitreal ranibizumab and laser photocoagulation. Treatment resulted in ROP regression in both cases. There were no signs of systemic or ocular adverse side effects. CONCLUSION: The cases presented show that combination therapy of indirect laser photocoagulation and intravitreal ranibizumab can be effective in the management of aggressive posterior ROP. Further investigation on anti-VEGF safety in premature infants is necessary. Additional studies are needed to define the role of anti-VEGF in ROP treatment.