Long-term outcomes of "open iridectomy" for secondary anterior chamber epithelial iris cysts.

Epithelial cysts run a high risk of recurrence and conversion to sheet-like ingrowth after surgical intervention. In this retrospective study, we introduced a modified iridectomy for treatment of secondary epithelial iris cysts (EICs) in the anterior chamber. Twenty-nine patients (29 eyes) aged 2-61 years received "open iridectomy" for EICs between April 1995 and July 2019. After viscodissection, most of the cyst wall was cut using a 20-gauge aspiration cutter via a 2.5-mm clear corneal incision. The residue closely adhering to the iris stroma was remained to avoid photophobia and diplopia. At 3 months, best corrected visual acuity was ≥ 20/100 in 55.5% (15/27, except two pediatric patients with poor cooperation) of patients. Among the eight patients suffering partial corneal edema preoperatively, six patients received surgery treatment at 3-6.5 months, and the cornea in the other two patients became transparent after medication. In a mean follow-up of 47.4 months, recurrence occurred in 3 patients at 7, 37, and 118 months, respectively. The percentage of treatment success was 96%, 87%, and 65% at 1, 5, and 10 years, respectively. "Open iridectomy" was effective for EICs, with a minimal invasion, less damage to the corneal endothelium, and a low recurrence rate.

Update in Pediatric Pseudotumor Cerebri Syndrome.

Pseudotumor cerebri syndrome (PTCS) is a rare condition in children presenting with headache and papilledema from increased intracranial pressure that can cause significant morbidity. This can be idiopathic, also known as idiopathic intracranial hypertension or primary intracranial hypertension, or can be secondary to medications and associated medical conditions. Given the threat to vision, early detection and treatment is needed in all age groups. However, identifying papilledema or pseudopapilledema in children presents unique challenges sometimes as a result of differences between prepubertal and postpubertal children, further elucidating the complex pathophysiology. Management requires brain imaging, lumbar puncture, and frequent eye exams with medical and rarely surgical treatment. Visual outcomes in children are favorable if caught early and management can be prolonged over years. Pediatric PTCS is different from adult PTCS in many ways, and this review will focus on the most updated definitions of the disease, theories of pathophysiology, management, and treatment in the pediatric population.

Coexistence of papilledema and pseudopapilledema after remission of idiopathic intracranial hypertension by bariatric surgery / Coexistência de papiledema e pseudopapiledema após remissão de hipertensão intracraniana idiopática por cirurgia bariátrica

ABSTRACT A 37-year-old woman complained of headaches following bilateral visual loss in the past two years. She was obese and had undergone bariatric surgery three months earlier, followed by a considerable weight loss. Neuro-ophthalmic examination revealed a bilateral swollen optic disk. After a computerized analysis of the visual fields and magnetic resonance imaging of the brain and orbits, a diagnosis of idiopathic intracranial hypertension was made. At six months after the bariatric surgery, the patient reported no further headaches and exhibited better findings on computerized analysis of visual fields. However, fundus examination revealed persistent mild papilledema in both eyes. Ocular B-scan ultrasonography showed bilateral optic disk drusen. This report highlights the coexistence of true papilledema and pseudopapilledema due to optic disk drusen, following remission of idiopathic intracranial hypertension after a bariatric surgery.

RESUMO Uma mulher de 37 anos queixou-se de cefaleia após perda visual bilateral nos últimos dois anos. Apresentava história de obesidade e havia sido submetida à cirurgia bariátrica três meses antes, seguida de considerável perda de peso. O exame neuro-oftálmico revelou um disco óptico inchado bilateral. Após uma análise computadorizada dos campos visuais e ressonância magnética do crânio e órbitas, foi feito um diagnóstico de hiper tensão intracraniana idiopática. Após seis meses da cirurgia bariátrica, a paciente não relatou mais cefaleia e foram descobertas melhoras na análise computadorizada dos campos visuais. No entanto, o exame de fundo de olho revelou papiledema leve persistente em ambos os olhos. A ultrassonografia ocular B-scan mostrou drusas do disco óptico bilateralmente. Este relato destaca a coexistência de papiledema verdadeiro e pseudopapiledema devido à drusa de disco óptico após remissão da hipertensão intracraniana idiopática após uma cirurgia bariátrica.

Coexistence of papilledema and pseudopapilledema after remission of idiopathic intracranial hypertension by bariatric surgery.

A 37-year-old woman complained of headaches following bilateral visual loss in the past two years. She was obese and had undergone bariatric surgery three months earlier, followed by a considerable weight loss. Neuro-ophthalmic examination revealed a bilateral swollen optic disk. After a computerized analysis of the visual fields and magnetic resonance imaging of the brain and orbits, a diagnosis of idiopathic intracranial hypertension was made. At six months after the bariatric surgery, the patient reported no further headaches and exhibited better findings on computerized analysis of visual fields. However, fundus examination revealed persistent mild papilledema in both eyes. Ocular B-scan ultrasonography showed bilateral optic disk drusen. This report highlights the coexistence of true papilledema and pseudopapilledema due to optic disk drusen, following remission of idiopathic intracranial hypertension after a bariatric surgery.

Pigmented paravenous retinochoroidal atrophy associated with Vogt-Koyanagi-Harada disease: a case report.

BACKGROUND: To describe a unique case of pigmented paravenous retinochoroidal atrophy that developed several years after Vogt-Koyanagi-Harada disease. CASE PRESENTATION: A 28-year-old woman presented with gradual vision loss in both eyes and nyctalopia for 2 years. Past medical history was relevant for Vogt-Koyanagi-Harada disease since the age of 19 and positive HLA-DR4. Funduscopic examination revealed perivascular pigmentary clumping and atrophic changes radiating from the optic disks. Spectral domain optical coherence tomography through the macula demonstrated perifoveal outer retinal layers loss with cystic degeneration. Fundus autofluorescence showed zonal areas of hypoautofluorescence corresponding to the areas of atrophy. Full-field electroretinogram identified mildly reduced scotopic and photopic responses. The patient was diagnosed with pigmented paravenous retinochoroidal atrophy. CONCLUSIONS: Pigmented paravenous retinochoroidal atrophy may be acquired after Vogt-Koyanagi-Harada disease. Pathogenesis of pigmented paravenous retinochoroidal atrophy may involve inflammatory-related precursors on a background of genetic predisposition.

Ocular characteristics in a variant microcephalic primordial dwarfism type II.

BACKGROUND: Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II) is a rare disease that is assumed to be caused by a pericentrin (PCNT) gene mutation. Clinical manifestations have been reported in pediatrics and neurology; however, only a few ocular findings have been documented. CASE PRESENTATION: We present three unrelated cases of MOPD II with similar facial features and short stature. Unlike the cases described in the literature, all subjects had normal birth weight and height but their growth was retarded thereafter. In addition to delayed milestones, they have a broad forehead, maxillary protrusion, long peaked nose, high nasal bridge, low-set large ears, extreme reromicrogenia, and normal-sized teeth. These three patients had similar ocular manifestations with the short axial length associated with high hyperopia more than + 9 diopters (D) and macular scarring. The oldest subject was a 20 year-old male without neurological symptoms. One female subject had developed alopecia during the previous 2 years. The other female subject had moyamoya disease, but a genetic study revealed a normal PCNT gene. CONCLUSION: This is the first report of MOPD II focusing on ocular findings, suggesting that macular dystrophy and high hyperopia are the common ocular characteristics of MOPD II. Prompt referral to an ophthalmologist is essential. Although refractive amblyopia can be treated with optical correction, visual prognosis may be poor due to maculopathy.

Progressive High Hypermetropic Shift as a Refractive Surprise Following Glaucoma Filtration Surgery in a Phakic Child With Early-Onset Childhood Glaucoma Associated With Axenfeld-Rieger Anomaly.

PURPOSE: We report a case of progressive high hypermetropia following glaucoma filtration surgery in a child with Axenfeld-Rieger syndrome and congenital glaucoma. METHODS/RESULTS: We report a case of a 4-day-old female child presented as a case of Axenfeld-Rieger anomaly with secondary glaucoma in both eyes (OU), who underwent combined trabeculotomy with trabeculectomy in OU at the age of 3 weeks. On postoperative third month, cornea cleared and posterior embryotoxon was noted in OU with Habb's striae in OS. Intraocular pressure (IOP) was controlled and fundus was normal in OU. Refraction was +2.00 D sph. in OD and 3.00D sph. in OS and was observed. On postoperative eighth month, IOP was controlled in OU, whereas retinoscopy showed refraction of +4.00D sph./-2.00D cyl at 30 degrees in OD and +10.00 D sph/-3.00 cyl at 120 degrees in OS, glasses were prescribed and was asked to review. After 4 years, the patient presented with blurring of vision, the best-corrected visual acuity noted was 20/100 in OD and 20/320 in OS. IOP was 28 and 14 mm Hg in OD and OS, respectively, but with healthy optic disc in OU. Refractive error had increased and was +5.50D sph in OD and +14.00D sph/-5.00 D cyl at 90 degrees in OS. Corneal topography showed cornea plana in OU, which was more in OS (K1: 32.6D and K2: 38.9D) compared with OD (K1: 38.7D and K2: 40.1D). The patient was started on glaucoma medications in OD. Four months later, IOP was controlled and refraction was stable in OU. CONCLUSIONS: Present case is the first to describe the unusual presentation of progressive high hypermetropia in a child with Axenfeld- Rieger anomaly with congenital glaucoma after surgical intervention for glaucoma. Childhood glaucoma is classically associated with myopic shift in refraction and refraction is one of the most important clinical parameter measured at every follow-up visit. Although progressive hypermetropic shift is a rare occurrence, clinicians should be aware of this possibility. Keratomerty should be performed when such refractive surprises arise, which may help detect the clinical condition and the etiology for such presentation.

A Rare Case of Foveal Hypoplasia With Dyschromatosis Universalis.

Foveal hypopalsia (FH) is typically seen in association with diseases like albinism and aniridia, and familial FH (FFH) is very rare. The authors present a case of unique association of FH with dyschromatosis universalis hereditaria (DUH). Family members of this patient had history of nystagmus and dermal pigmentary anomalies, suggesting that this may represent FFH with DUH in X-linked pattern. The authors also discuss the role of pigment anomalies in manifesting as this combination. [Ophthalmic Surg Lasers Imaging Retina. 2019;50:192-195.].

Peripheral Persistent Fetal Vasculature: A Report of Three Cases.

The authors report three cases of persistent fetal vasculature (PFV) presenting with an atypical peripheral fibrovascular stalk. A 5-month-old with congenital exotropia with a vitreous hemorrhage in the right eye underwent vitrectomy, and a mid-peripheral vitreal vascular stalk was visualized within the area of hemorrhage. The second case is of an 8-year-old with two fetal vascular remnants in the right eye: (1) a stalk superotemporally extending from the pars plana to the mid-peripheral retina that was associated with a retinal break and (2) a focal lens opacity. The third case is a 12-year-old with a history of familial exudative vitreoretinopathy and peripapillary choroidal neovascular membrane found to have a peripheral vitreal stalk in the right eye. These cases demonstrate a rare form of PFV with primarily peripheral remnants. [Ophthalmic Surg Lasers Imaging Retina. 2018;49:e83-e88.].

Pediatric Pseudotumor Cerebri Syndrome.

Idiopathic intracranial hypertension, otherwise known as primary pseudotumor cerebri syndrome (PTCS), most frequently occurs in obese women of childbearing age. However, children may be affected as well. This review will address recent findings regarding demographics, diagnosis, and treatment of pediatric PTCS. Prepubertal children with primary PTCS have an equal sex distribution and less frequent obesity compared with adult patients. However, female gender and obesity are risk factors for primary PTCS in postpubertal children. Compared with adults, children with PTCS more frequently present with ocular motility deficits and more often have associated medical conditions that increase the risk of developing PTCS. Visual field testing may be unreliable, and the optimal modality to monitor visual function is unknown. MRI shows signs of elevated intracranial pressure (ICP) in children with PTCS similar to that of adults. It has now been established that elevated ICP in children ≤18 years old is greater than 25 cm H20 in nonobese, nonsedated children, and greater than 28 cm H2O in the remainder. Optical coherence tomography (OCT) may be used to distinguish pseudopapilledema from papilledema, monitor response to treatment in preverbal children, and identify patients with PTCS at risk for permanent visual loss. However, the precise role of OCT in the management of pediatric PTCS remains to be determined.

The incidence and risk factors for the development of vitreomacular interface abnormality in diabetic macular edema treated with intravitreal injection of anti-VEGF.

PurposeTo report the incidence and associated factors for the development of vitreomacular interface abnormality (VMIA) in patients with diabetic macular edema (DME) who received intravitreal injection (IVI) of anti-VEGF (Bevacizumab and Ranibizumab) treatment.MethodsA retrospective observational study. Patients with DME followed at least 6 months were reviewed. Baseline best-corrected visual acuity (BCVA), central retinal thickness (CRT) and final BCVA, CRT in eyes with and without VMIA were compared. Multiple logistic regression was also used to investigate the risk factors of VMIA formation in patients with DME treated by anti-VEGF.ResultsA total of 201 eyes in 142 patients met the inclusion criteria of the study. VMIA developed in 44 eyes (21.89%) of patients during a mean follow-up period of 40.84 months. The estimated mean incidence of VMIA formation was 6.43% per year. Poor baseline BCVA was found to be a risk factor for VMIA development (P=0.001, odds ratio=5.299, 95% confidence interval: 1.972 to 14.238). There was no difference between eyes with and without VMIA formation in improving BCVA (P=0.557) and lowering the macular edema (eyes without VMIA formation: -107.72±171.91 µm; eyes with VMIA formation: -155.02±212.27 µm, P=0.133).ConclusionsThis study revealed the incidence of VMIA formation in IVI anti-VEGF treated DME eyes was 6.43%. Poor baseline BCVA was found to be a risk factor for VMIA formation. Both eyes with and without VMIA development had favorable response to anti-VEGF treatment.

SD-OCT to distinguish papilledema from pseudopapilledema.

CASES REPORT: Two patients presented with headache and bilateral papillary edema. Patient 1 was found to have a papilledema (P) with intracranial pressure of 32cmH2O. Patient 2 was found to have a migraine with a pseudopapilledema (PP) (optic nerve head drusen). SD-OCT was used to image the optic disc, subretinal hyporeflective space (SHS), and alpha-angle (Aα). DISCUSSION: Optic disc SD-OCT may be useful for differentiating disc morphology in P and PP. The area of the SHS and the Aα were higher in the P patient than in the patient with PP.

Strabismus surgery in congenital fibrosis of the extraocular muscles: a paradigm.

BACKGROUND: Congenital fibrosis of extraocular muscles (CFEOM) is a rare group of disorders with variable phenotypes that result from aberrant innervation to the EOMs leading to synergistic vertical and/or horizontal deviations. We report our experience with the surgical management of patients with CFEOM. MATERIALS AND METHODS: We reviewed the clinical findings, the surgical management, and outcomes of 52 consecutive CFEOM patients operated by one surgeon at a university hospital setting between 1993 and 2014. Patients were divided into CFEOM1, 2, or 3 based on clinical and/or molecular genetic findings. RESULTS: Thirty-seven (71.2%) cases were bilateral and 15 (28.8%) were unilateral. Six of the bilateral cases had CFEOM2, and the rest of the patients had either CFEOM1 or CFEOM3. The median age at the first surgery was 10 (1-43) years. Twenty-five were females and 27 were males. Nineteen patients had previous strabismus and/or ptosis surgeries elsewhere. The mean number of operations at our center was 1.6 ± 0.7 (1-4). A temporary stay suture was used in eight patients and permanently in seven. Of the 40 patients with abnormal head position, 18 achieved excellent, 15 good, and seven poor outcomes and ocular alignment in primary position following the latest surgery was excellent in 19, good in 18, and poor in 14 of the patients, as defined in the "Methods" section of the paper. CONCLUSIONS: Although patients with CFEOM present significant strabismus surgical challenges because of EOM dysinnervation, fibrosis, and/or heterotopia, satisfactory alignment and improvement of the head posture can be attained in a significant proportion of patients using an individually tailored surgical approach.

A truncated form of rod photoreceptor PDE6 ß-subunit causes autosomal dominant congenital stationary night blindness by interfering with the inhibitory activity of the γ-subunit.

Autosomal dominant congenital stationary night blindness (adCSNB) is caused by mutations in three genes of the rod phototransduction cascade, rhodopsin (RHO), transducin α-subunit (GNAT1), and cGMP phosphodiesterase type 6 ß-subunit (PDE6B). In most cases, the constitutive activation of the phototransduction cascade is a prerequisite to cause adCSNB. The unique adCSNB-associated PDE6B mutation found in the Rambusch pedigree, the substitution p.His258Asn, leads to rod photoreceptors desensitization. Here, we report a three-generation French family with adCSNB harboring a novel PDE6B mutation, the duplication, c.928-9_940dup resulting in a tyrosine to cysteine substitution at codon 314, a frameshift, and a premature termination (p.Tyr314Cysfs*50). To understand the mechanism of the PDE6ß1-314fs*50 mutant, we examined the properties of its PDE6-specific portion, PDE6ß1-313. We found that PDE6ß1-313 maintains the ability to bind noncatalytic cGMP and the inhibitory γ-subunit (Pγ), and interferes with the inhibition of normal PDE6αß catalytic subunits by Pγ. Moreover, both truncated forms of the PDE6ß protein, PDE6ß1-313 and PDE6ß1-314fs*50 expressed in rods of transgenic X. laevis are targeted to the phototransduction compartment. We hypothesize that in affected family members the p.Tyr314Cysfs*50 change results in the production of the truncated protein, which binds Pγ and causes constitutive activation of the phototransduction thus leading to the absence of rod adaptation.

[Ocular involvement in familial amyloid polyneuropathy]. / Atteintes oculaires des neuropathies amyloïdes héréditaires liées à la transthyrétine.

Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adult onset, which is transmitted as an autosomal dominant trait. In addition to neurologic symptoms, FAP may be associated with weight loss, cardiac and renal failure and ocular complications. FAP is a devastating disease, causing death within 10years after the first symptoms. The TTR Val30Met mutation is the most common of more than 100 amyloidogenic mutations identified worldwide. Liver transplantation (LT) is currently the only treatment for preventing synthesis of the amyloidogenic variants of TTR. LT can halt progression of the neuropathy in up to 70% of cases and doubles the overall median survival of young Val30Met patients. Oral administration of tafamidis, which prevents deposition of mutated TTR, is now available to delay neurologic complications in early stages of the disease. Ocular manifestations of FAP are frequent and mainly include keratoconjunctivitis sicca, secondary glaucoma, vitreous deposits and pupillary abnormalities. Retinal and choroidal vascular abnormalities are more rare. Since ocular TTR is synthesized, at least in part, in the retinal pigment epithelium, LT does not influence the course of ocular involvement. The effects of tafamidis on the latter are still unknown. Because LT and symptomatic treatments greatly improve life expectancy of patients with FAP, ocular involvement is becoming a more frequent challenge to address. This review summarizes the pathophysiology, clinical findings and possible treatments of ocular manifestations of FAP.

Eye and brain abnormalities in congenital muscular dystrophies caused by fukutin-related protein gene (FKRP) mutations.

BACKGROUND: Mutations in the fukutin-related protein gene account for a broad spectrum of phenotypes ranging from severe congenital muscular dystrophies to a much milder limb-girdle muscular dystrophy 2I. The involvement of the eyes is variable, with most patients having normal eye examination. OBJECTIVES: We describe eye and brain abnormalities in a 16 month-old-boy with Walker-Warburg syndrome phenotype resulting from a novel fukutin-related protein gene mutation in exon 4 and compare these with other reported patients with fukutin-related protein gene mutation. METHODOLOGY: All patients with reported fukutin-related protein gene mutations who had eye involvement were included. Their clinical features, brain magnetic resonance imaging, and eye findings were compared with our patient. CONCLUSIONS: Patients with fukutin-related protein gene mutation tend to have no or mild eye involvement (generally strabismus), with very few cases reported of moderate to severe eye involvement. Our patient with a novel mutation c.558dupC(p.Ala187fs) represents one of the most severe phenotypes described in regard to eye involvement.

Giant dacryocystocele and congenital alacrimia in lacrimo-auriculo-dento-digital syndrome.

The lacrimo-auriculo-dento-digital syndrome, also known as Levy-Hollister syndrome, is a rare multiple congenital dysplasia characterized by malformation of the lacrimal apparatus and by aural, dental, and digital anomalies. Since the first report in 1973, different clinical findings such as urogenital malformations and facial dysmorphism have been described in the affected patients, showing that the phenotypic spectrum of the syndrome is broad. The authors report for the first time an association among giant dacryocystocele, alacrima, and agenesis of the lacrimal puncta in a patient with lacrimo-auriculo-dento-digital syndrome.

Department-related tasks and organ-targeted therapy in Fabry disease: an interdisciplinary challenge.

Fabry disease is a rare X-linked storage disorder leading to an accumulation of globotriaosylceramides in all cells carrying lysosomes. As the accumulation occurs in most organs, different medical specialties are involved in the diagnostics and therapy of Fabry disease. With this review of the 3 main specialties (cardiology, nephrology, and neurology) and, in addition, the adjacent specialties (ophthalmology and dermatology), we aim to discuss the division-related responsibilities and want to suggest an organ-related additional therapy besides enzyme replacement therapy.