What to expect from primary inferior oblique overaction after esotropia surgery : Primary inferior oblique overaction in esotropia.

BACKGROUND: Overelevation in adduction is common in patients with primary esotropia. This study evaluates the variation in ocular motility pattern in patients with primary inferior oblique (IO) muscle overaction after esotropia surgery. METHODS: The medical records of consecutive patients who underwent surgery for infantile, partially accommodative, and basic esotropia over eleven years and had at least one year of follow-up were reviewed. Patients with primary inferior oblique muscle overaction (IOOA) presented at baseline or during follow-up were selected and divided according to the first surgery performed concurrently with horizontal rectus surgery: without IO recession (NO-recess), with unilateral IO recession (UNIL-recess), and with bilateral IO recession (BIL-recess). The success (version normalisation or at least 2 points upgrade in severity scale [0-4] in the operated eye), recurrence rates, and the evolution of the non-operated IO muscles were evaluated. RESULTS: One hundred and ten patients were included - 53 NO-recess, 26 UNIL-recess, and 31 BIL-recess. Medial rectus muscle posterior fixation sutures surgery (PFS) was performed in 88.2% of patients for esotropia. A recession with graded anterior transposition was the weakening IO procedure. In the NO-recess group, 28 (52.8%) patients normalised their mild IOOA after PFS surgery alone. In the UNI-recess group, the success rate was 88.5%, with 16 (61.5%) patients showing worsened IO muscle of the fellow eye, which prompted additional surgery in 10 patients. In the BIL-recess group, all 31 patients improved the adduction pattern of the operated eye for an 80.6% success rate (6 improved marginally). CONCLUSION: Graded anterior transposition of the inferior oblique muscle effectively normalises versions. However, it's frequent for a contralateral overaction to become manifest after unilateral IO surgery.

Unraveling Hermansky-Pudlak syndrome type 7: a case report and comprehensive literature review on the identification of DTNBP1 variants.

PURPOSE: We report a case of Hermansky-Pudlak Syndrome type 7 (HPS-7) caused by a homozygous variant in the dystrobrevin-binding protein 1 gene (DTNBP1) and highlight the genetic challenges associated with this rare disorder. METHODS: Case report. Literature review was performed by searching PubMed on May 2023, without language or date restriction, using the following terms: Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome type 7, and dystrobrevin-binding protein 1 gene. RESULTS: We report a case of a 69-year-old Portuguese female who presented for ophthalmic evaluation with long-standing severe visual impairment, pronounced photophobia, right-eye esotropia, and bilateral pendular nystagmus. Anterior segment examination revealed iris transillumination defects, while the ocular fundus showed hypopigmentation and the absence of the foveal reflex. The patient had a history of oculocutaneous albinism (OCA) and recurrent epistaxis. Her family history was positive for first-degree consanguineous parents and a deceased sister at young age who also exhibited OCA and recurrent epistaxis. Genetic testing identified a homozygous pathogenic nonsense variant in the DTNBP1, c.307C>T p.(Gln103*). The patient's clinical features and genetic testing support the diagnosis of HPS-7. The identified variant has been previously reported in the literature, in adult patients of Portuguese descent. CONCLUSION: This work highlights the genetic complexity of HPS-7 and emphasizes the importance of genetic testing in the diagnosis of this rare disorder. The identification of a rare pathogenic variant expands our understanding of HPS-7 genetics and suggests a possible founder effect in the Portuguese population.

Cohen Syndrome: Novel VPS13B Genetic Variants in a Male Portuguese Patient with Pigmentary Retinopathy.

The purpose of this clinical report was to describe a case of Cohen syndrome with its classical ophthalmological manifestations and novel VPS13B genetic variants. A 39-year-old Caucasian male patient with severe rod-cone retinal dystrophy and no history of parental consanguinity was referred to our ophthalmology department. Ophthalmologic history included high bilateral myopia and a 3-year prior bilateral cataract surgery. Systemic history included facial dysmorphism, intellectual disability, transient neutropenia, microcephaly, truncal obesity, and joint hyperextensibility. The patient presented classic fundoscopic features of pigmentary retinopathy in both eyes (OU). Optical coherence tomography (OCT) revealed bilateral central and diffuse retinal pigment epithelium (RPE) and outer retinal atrophy without concomitant macular edema, while fluorescein angiography (FA) demonstrated diffuse RPE atrophy with prominent choroidal vessels. The full-field ERG (ffERG) showed no dark-adapted or light-adapted responses and the P50 wave was not identified in the pattern ERG (pERG). The genetic study revealed two novel heterozygous variants in the VPS13B gene: (1) c.5138T>C p.(Leu1713Pro) and (2) c.10179del p.(Asn3393Lysfs*37), thus confirming the diagnosis of Cohen syndrome. This case report introduces these two novel genetic variants to the literature, in a patient with classic phenotypic characteristics of Cohen syndrome, a rare genetic disease which has been increasingly reported since its first description in 1973.

Revisiting Posterior Fixation Sutures Surgery: Unveiling Novel Approaches for Primary Management of Diverse Esotropia Cases.

INTRODUCTION: Strabismus, specifically esotropia, presents a significant challenge in ophthalmic surgery, while several treatment options exist. This study aims to evaluate the results of posterior fixation sutures (PFS) on the medial rectus as a primary approach for some types of esotropia. METHODS: The medical records of consecutive patients who underwent surgery for esotropia over 11 years and had at least 1 year of follow-up were reviewed retrospectively. Patients were classified into one of three types of deviation: infantile (IE), partially accommodative (PAE) and basic (BE) esotropias. An alignment within 16 prism diopters (PD) of orthotropia was a successful outcome. RESULTS: A total of 404 patients were included: 67 IE, 180 PAE and 157 BE. Before surgery, a deviation greater than 30 PD was present in 88.1% and 80.1%, and a deviation greater than 50 PD was present in 66.5% and 52.9% of patients (near and distance, respectively). In the BE group, PFS was the baseline surgery in a smaller number of cases (75%) compared to the other two groups (versus 86.6% [IE] and 88.3% [PAE], p = 0.002). The need for an additional procedure was significantly higher in the infantile esotropia group (44.8% vs. 18.9% and 24.8%, p < 0.001). Final surgical success was achieved in 95.3% of all patients. Orthotropia was achieved in 19.4% (IE), 29.6% (PAE) and 25.5% (BE) of cases. CONCLUSION: PFS of the medial rectus without recession proved successful as a first-line procedure for esotropia in the subtypes of patients evaluated in this study.

Cone dystrophy with supernormal rod responses: A rare KCNV2 gene variant.

PURPOSE: To describe the clinical, electrophysiological, and genetic findings of three Portuguese families with a rare variant in the KCNV2 gene resulting in "cone dystrophy with supernormal rod responses" (CDSRR). METHODS: Retrospective clinical revision of five individuals from three unrelated families with CDSRR. Ophthalmological examination was described in all patients and included color vision testing, fundus photography, fundus autofluorescence (FAF) imaging, spectral domain-optical coherence tomography (SD-OCT), pattern electroretinogram (ERG), and full-field ERG. The mutational screening of the KCNV2 gene was performed with Sanger and Next Generation Sequencing. RESULTS: All patients showed childhood-onset photophobia and progressive visual acuity loss with varying degrees of severity. In multimodal imaging, various degrees of retinal pigment epithelium disturbances and outer retinal atrophy, which tend to be worst with advancing age, were observed. Molecular screening identified a rare presumed truncating variant (p.Glu209Ter) in homozygosity in two families and in compound heterozygosity in a third family. Three patients showed ERG changes characteristic of CDSRR, however, two patients presented with incomplete electrophysiological features of the disease. CONCLUSION: A rare variant in the KCNV2 gene was identified in five patients from three Portuguese families. This variant often leads to a severe and progressive form of retinopathy. Considerable variability in the ERG responses among patients with this KCNV2 variant was observed.

Child with a mild phenotype of Incontinentia Pigmenti and inner retinal dysfunction.

PURPOSE: To describe a case of a child with mild phenotype of Incontinentia Pigmenti (IP), with changes in Spectral-Domain Optical Coherence Tomography (SD-OCT) and Optical Coherence Tomography Angiography (OCT-A) and an electronegative dark-adapted (DA) 3.0 electroretinogram (ERG), suggestive of inner retinal dysfunction. CASE REPORT: We described a 7-year-old female child with IP. Her best corrected acuity was 8/10 in the right eye and 6/10 in the left eye. Biomicroscopy, intraocular pressure and fundoscopy were normal. The electroretinography findings showed an electronegative DA 3.0 ERG with a normal a-wave but a b-wave that did not elevate above baseline. SD-OCT identified irregularities in the outer plexiform layer in both eyes, and OCT-A assessment revealed at the superficial capillary plexus, areas of decrease in the flow in parafoveal and perifoveal regions. CONCLUSION: Classically, IP affects the peripheral retina; however, vascular and structural changes in macula can occur as well. To our knowledge, we report the first electronegative electroretinogram in a patient with IP.

Longitudinal Retinal Changes Induced by Hydroxychloroquine in Eyes without Retinal Toxicity.

INTRODUCTION: This study aimed to evaluate the longitudinal changes in retinal layer thickness in patients treated with hydroxychloroquine without retinal toxicity. METHODS: This is a longitudinal retrospective study of patients taking hydroxychloroquine followed in a hydroxychloroquine retinal toxicity screening program of a tertiary hospital between January 2010 and April 2019. Patients who performed 2 optical coherence tomography (OCT) scans at least 1 year apart were included. All subjects with hydroxychloroquine suspected or confirmed retinal toxicity, glaucoma, retinal pathology, or poor segmented images were excluded. Spectral-domain optical coherence tomography (Spectralis HRA-OCT, Heidelberg) was used to evaluate the macular area. Automatically segmented ETDRS retinal thickness maps were compared between the first and the last OCT evaluation available. Full retina (FR), inner retina (IRL), ganglion cells (GCL), inner nuclear (INL), and outer retina (ORL) layer thicknesses were measured in the foveolar, paracentral, and peripheral area. RESULTS: The population included 144 eyes of 144 patients. The mean interval between OCT scans was 38.1 ± 18.4 months, and the mean cumulative dose was 406.9 ± 223.9 g. Foveolar (p = 0.040, p = 0.006, and p = 0.001, respectively) and paracentral (p = 0.006, p = 0.001, and p = 0.005, respectively) FR, IRL, and GCL decreased overtime. No differences were found in INL or ORL. A very weak correlation was found between age and foveal IRL change overtime (p = 0.037; R = 0.175), as well as between the hydroxychloroquine time of use and foveal GCL variation (p = 0.032; R = 0.179). CONCLUSION: Hydroxychloroquine was found to cause progressive thinning of the inner retinal layers, specifically in the GCL of the foveolar and paracentral areas, but no changes were observed in the outer retina.

A novel homozygous frameshift variant in the cellular retinaldehyde-binding protein 1 (RLBP1) gene causes retinitis punctata albescens.

BACKGROUND: Retinitis punctata albescens is a form of retinitis pigmentosa characterized by white fleck-like deposits in the fundus, in most cases caused by pathogenic variants in RLBP1 gene. The purpose of this work is to report the phenotypic and genotypic data of a patient with retinitis punctata albescens carrying a deletion in the RLBP1 gene. RESULTS: An 8-year-old Caucasian female has been complaining of nyctalopia for the last 2 years. No other ocular symptoms were present. No relevant past medical or familiar history was described. At clinical examination, the patient's best-corrected visual acuity was 20/20 in both eyes. Anterior segment evaluation and intraocular pressure were normal in both eyes. At fundoscopy, multiple punctate whitish-yellow fleck-like lesions were observed in the proximity of temporal superior and inferior vascular arcades. Scotopic electroretinogram demonstrated severely reduced rod response, without improvement or recovery of rod system function after prolonged dark adaptation. Blood DNA samples of this patient and from her parents were screened for causal variants in RLBP1, RDH5, and PRPH2. CONCLUSION: A probable pathogenic frameshift variant was identified in homozygosity in the RLBP1 gene with an autosomal recessive transmission as another cause of retinitis punctata albescens. This DNA variant will aid ongoing functional studies and add to our understanding of the molecular pathology about RLBP1-associated retinopathies.

A novel MFRP gene variant in a family with posterior microphthalmos, retinitis pigmentosa, foveoschisis, and foveal hypoplasia.

BACKGROUND: To characterize the phenotype and genotype of a syndrome associating posterior microphthalmos (PM), retinitis pigmentosa (RP), foveoschisis, and foveal hypoplasia (FH) in a consanguineous Portuguese family. MATERIALS AND METHODS: Three siblings were studied and underwent comprehensive eye examinations for best-corrected visual acuity, axial length, refractive error, B-mode ultrasound, electroretinography, retinography, fluorescein angiography (FA), kinetic visual field (VF), and optical coherence tomography (OCT). Molecular analysis was performed by Sanger sequencing of the entire coding region of the MFRP gene. RESULTS: All members presented nyctalopia, decreased visual acuity, and constriction of the VF, as well as bilateral shortening of the posterior ocular segment and normal anterior segment dimensions. The fundoscopy and ERG results were compatible with RP. Macular OCT analysis revealed schisis of the outer retinal layer, FH, as well as retinal and choroidal folds. We identified a homozygous mutation in intron 9 of the membrane frizzled-related protein (MFRP) gene (c.1124 + 1 G > A). CONCLUSIONS: Our study shows a family with PM and RP due to a mutation in the MFRP gene. The relationship has previously been proven, but this specific mutation has never been described. These gene mutations show wide phenotypic variability, being evident in the presence of foveoschisis, retinal and choroidal folds, and FH, other than PM and RP.

Idiopathic Acute Exudative Polymorphous Vitelliform Maculopathy: Insight into Imaging Features and Outcomes.

The authors describe imagiological findings in idiopathic exudative polymorphous vitelliform maculopathy. A 41-year-old woman complained of bilateral blurry vision. Best-corrected visual acuity was 20/20 bilaterally. Bilateral small serous neurosensory detachments in the fovea were seen at fundoscopy and confirmed by spectral-domain optical coherence tomography. Fluorescein angiography was unremarkable. Indocyanine green angiography presented discrete hyperfluorescent spots on the posterior pole. Later, more bleb-like lesions with a vitelliform appearance and hyperautofluorescent on blue fundus autofluorescence were detected. One year later, a complete resolution of the fluid was observed. To conclude, multimodal evaluation of patients with idiopathic exudative polymorphous vitelliform maculopathy is essential for the correct diagnosis of this disease.

Adequacy of the Fogging Test in the Detection of Clinically Significant Hyperopia in School-Aged Children.

PURPOSE: To evaluate the efficacy of the "fogging test," performed with a +2 diopters (D) lens, in the exclusion of clinically significant hyperopia in school-aged children. METHODS: We studied 54 children between 5 and 11 years of age, with 10/10 best-corrected bilateral visual acuity (VA) without significant degree of correction. VA was assessed in each eye with a "bilateral" +2 D sphere over-refraction followed by cycloplegic retinoscopy. The capacity of the test to detect hyperopia of ≥+2 D and ≥+1.5 D was evaluated by examining the respective receiver operating characteristic (ROC) curves and sensitivity and specificity values for different cutoff values of VA. RESULTS: For the detection of hyperopia ≥+2 D, the area under the ROC curve (AUC) was 0.955 (p ≤ 0.001). The VA cutoff with best discriminative capacity was ≥5/10, with a sensitivity of 100%, specificity of 79%, positive predictive value (PPV) of 57%, and negative predictive value (NPV) of 100%. In respect of ≥+1.5 D hyperopia, the test capacity was lower (AUC = 0.832; p ≤ 0.001). The best VA cutoff was also of ≥5/10, with a PPV of 81% and a NPV of 85%. CONCLUSION: The accuracy of the test was high for the evaluation of ≥+2 D hyperopia but lower for ≥+1.5 D hyperopia. For the detection of ≥+2 D hyperopia, the VA cutoff of <5/10 may permit the exclusion of clinically significant hyperopia in selected children, without the need for cycloplegia. For the same cutoff, the PPV was low, meaning that in children with ≥5/10 VA cycloplegic refraction remains obligatory.

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.].

Presumed bilateral cilioretinal artery occlusion related to relapsing white dot syndrome.

PURPOSE: To report a presumed case of bilateral asynchronous cilioretinal occlusion associated with white dot syndrome. METHODS: A 19-year-old woman presented with decreased vision in the right eye. Cilioretinal occlusion was diagnosed and multimodal imaging was performed. RESULTS: Laboratory workup was negative. Fluorescein and indocyanine green angiography revealed an inflammatory choroidopathy in the right eye. Spectral-domain coherence tomography (OCT) initially showed internal retinal layer edema followed by atrophy in the papillomacular bundle. Left eye presented asymptomatic decreased visual acuity and OCT findings were compatible with previous cilioretinal occlusion. CONCLUSIONS: Cilioretinal occlusion findings were present in both eyes. Multimodal fundus imaging allowed idiopathic inflammatory choroidopathy diagnosis in the right eye, suggesting that a recurrent inflammatory process caused an asynchronous vascular occlusion.