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Bilateral Keratomalacia Leading to Blindness Secondary to Diet-Induced Vitamin A Deficiency in Infants.

Vitamin A is a fat-soluble vitamin that plays an important role in the development of the immune system, and a deficiency can cause blindness associated with xerophthalmia and premature mortality. Blindness from vitamin A deficiency is avoidable if supplements such as breast milk and other food fortification are provided to neonates at the time of weaning. The authors describe two infants who presented with keratomalacia and subsequent blindness. [J Pediatr Ophthalmol Strabismus. 2020;57:e12-e14.].

Trichothiodystrophy: a case report of childhood glaucoma associated with non-acquired systemic disease.

Trichothiodystrophy belongs to a group of rare genetic diseases characterized by DNA repair anomalies. Ocular manifestations can occur in 50% of cases, including cataract, refractive errors, strabismus, microcornea, microphthalmia, dry eye, and pigmentary macular changes. We report a case of childhood glaucoma in a patient with trichothiodystrophy who underwent trabeculectomy in the left eye. To our knowledge, this is the first clinical report of childhood glaucoma associated with trichothiodystrophy.

Malignant Ciliary Body Medulloepithelioma With Brain and Parotid Metastasis.

A 12-year-old girl with malignant ciliary medulloepithelioma and parotid metastasis was treated with semi-exenteration of the orbit and external beam radiotherapy. She had brain metastasis 7 months later and was treated with salvage chemotherapy. The patient was disease free at 11 months of follow-up. In aggressive cases, exenteration combined with radiotherapy and chemotherapy are necessary for disease control. [J Pediatr Ophthalmol Strabismus. 2017;54:e18-e22].

Traumatic avulsion of extraocular muscles: case reports.

We described the clinical, surgical details and results (motor and sensory) of the retrieving procedure of traumatically avulsed muscles in three patients with no previous history of strabismus or diplopia seen in the Department of Ophthalmology, State University of Campinas, Brazil. The slipped muscle portion was reinserted at the original insertion and under the remaining stump, which was sutured over the reinserted muscle. For all three cases there was recovery of single binocular vision and stereopsis.

A case of non-Fanconi anemia bone marrow dysfunction with familial involvement.

We report on a Greek girl with pancytopenia, short stature, clinodactyly, cleft palate, exopthalmus, strabismus, café-au-lait spots, and mild mental retardation in whom chromosomal analysis excluded Fanconi anemia. The occurrence of erythroleukemia in the family and the presence of macrocytosis in her father and low blood counts in her sister favor the diagnosis of an inherited syndrome of familial marrow dysfunction rather than that of a sporadic case.

Diplopia as an uncommon complication of cataract surgery.

Two patients are presented with diplopia after cataract extraction performed under local anesthesia. Since there was no spontaneous recuperation after several months, strabismus surgery was performed. The first patient presented a restriction of the inferior rectus muscle probably caused by the retrobulbar injection of anesthetics. The second patient had a decompensation of a congenital superior oblique palsy. A survey of the different etiologies of diplopia after cataract surgery is given.

Adult-onset cyclic esotropia and optic atrophy.

A 37-year-old man developed periodic esotropia with 4-day cycles. He was unique because of his age, negative family history for strabismus, bilateral optic atrophy, and absence of light perception in the deviating eye. Adult-onset cyclic esotropia in a blind eye is reported. This afferent defect may lead to secondary changes in the central nervous system, and fusional potential is not necessary for cyclic esotropia to occur.

Congenital ocular toxoplasmosis.

Congenital ocular toxoplasmosis is a significant cause of blindness. Retinochoroiditis is the most common finding, but other ocular manifestations include microphthalmus, nystagmus, strabismus, and ptosis. The serologic tests and lymphocyte stimulation test are the most useful aids in making the diagnosis. Pyrimethamine, sulfonamides, and corticosteroids are useful to treat active lesions. Primary care physicians, obstetricians, and ophthalmologists may help to prevent transmission of the disease and its serious ocular sequelae.

Optometric screening in achondroplasia, diastrophic dysplasia, and spondyloepiphyseal dysplasia congenita.

Visual screening tests were done on 61 individuals with various types of genetic skeletal dysplasias to determine which, if any, refractive errors are associated with each type. In individuals with achondroplasia, refractive error distribution was approximately that expected from its distribution in the general population. However, there was a significantly higher than expected frequency of strabismus in achondroplasts. A tendency to myopia was noted in diastrophic dysplasia and in those individuals with spondyloepiphyseal dysplasia.

Ophthalmologic abnormalities in institutionalized Congolese children with cognitive impairment.

OBJECTIVES: To determine the frequency and types of ophthalmologic anomalies in children with cognitive impairment, identify the causes of v … ultiple ophthalmologic abnormalities. Refractive errors (82.5%), stereoscopic disorders (22.5%) and strabismus (12.6%) were the most frequent disorders. Twenty-seven (33.7%) children had vision impairment. The causes of vision impairment were refractive errors (46.7%), strabismus amblyopia (20%), and cataract (13.3%). There was a significant association betw …

Взрослый Comitant Esotropia: Характеристики пациентов и медицинское освидетельствование.

ЦЕЛЬ: классифицировать демографические данные, клинические данные и результаты медицинской экспертизы по комитации взрослых эсотропии (АОКЕТ). МЕТОДЫ: Авторы провели ретроспективное исследование взрослых пациентов с AOCET и без истории детской страбизма, предшествовавшей операции со стррабизмом, окулярной травмой, недавним сотрясением мозга, другими неврологическими симптомами, исключающими диплию, деформацию или признаки шестого черепно- нервного паралича. Пациенты анализировались в зависимости от возраста наступления и погрешности при преломлении. Результаты: Включены двести шестьдесят восем

Совпадение в аннотации оригинала
PURPOSE: To categorize the demographics, clinical profile, and medical work-up findings in adult-onset comitant esotropia (AOCET). METHODS: The authors conducted a retrospective study of adult patients with AOCET and without a history of childhood strabismus, prior strabismus surgery, ocular trauma, recent concussion, other neurologic symptoms excluding dip…

Detailed measurements of the four extraocular rectus muscles' contribution to the perfusion of the anterior segment of the eye.

BACKGROUND/AIMS: Anterior segment ischaemia (ASI) is a rare but serious complication of strabismus surgery, which may be caused by damage to the anterior ciliary arteries that run along the rectus muscles. To avoid ASI, clinical praxis is to operate on a maximum of two rectus muscles at a time. The aim of this study was to perform a detailed study of the contribution of the four ocular rectus muscles to the perfusion of the anterior segment using laser speckle contrast imaging (LSCI). METHODS: The four rectus muscles were successively detached during enucleation in nine patients with suspecte…

Special clinical features with a novel mutation site of CHN1 gene in a Chinese family with Duane retraction syndrome.

PURPOSE: This study is to describe the special clinical and genotypic features of a Chinese family with variant types of Duane retraction sy … the proband. The proband and his mother shared the same CHN1 gene mutation site (c. 62A>G; p.Y21C). Strabismus surgery was performed on the proband to correct the primary gaze exotropia.(NM_001822: exon3 or NM_001025201: exon4: c. 62A>G; p.Y21C). CONCLUSIONS: A novel CHN1 gene mutation was revealed from a Chinese family with Duane retraction syndrome. Remar …

Optic nerve abnormalities in female-restricted Wieacker-Wolff syndrome by a novel variant in the ZC4H2 gene.

BACKGROUND: Wieacker-Wolff syndrome is an ultra-rare disease with X-linked inheritance characterized by arthrogryposis, intellectual disability, microcephaly, and distal limb muscle atrophy. Ophthalmic abnormalities such as ptosis, strabismus, and oculomotor apraxia have been reported in half of the patients. Wieacker-Wolff syndrome female-restricted (WRWFFR) is an even rarer disease recently used for females with a more severe phenotype. MATERIALS AND METHODS: Clinical geneticist and ophthalmic examination, neuroimaging, and exome sequencing. RESULTS: A 4 years-old girl with developmental a…

Association between external ophthalmoplegia with diplopia due to brain injury and FIM motor items: a case-control study.

UNLABELLED: Watabe T, Abe M, Sako R, Suzuki H, Yoda M, Kawate N. Association between external ophthalmoplegia with diplopia due to brain inj … able to walk under supervision and had preserved intellectual function. The correlation between the strabismus angle of the external ophthalmoplegia group and the total points of FIM motor items were examined. In addition, the total points and sub-items were compared between the external ophthalmoplegia group and control group using statistical processing. …

Duplication of 19q (13.2-13.31) associated with comitant esotropia: A case report.

BACKGROUND: Comitant esotropia is the most common form of strabismus. It is caused by heterogeneous environmental and genetic risk factors. The pure duplication of the long arm of chromosome 19 is a rare abnormality. Only 8 patients with partial trisomy of the long arm of chromosome 19q have been reported to date. Here, we describe a girl with pure duplication of 19q, who was diagnosed with congenital esotropia, microcephaly, and gallbladder agenesis. CASE SUMMARY: The patient was diagnosed with esotropia when she was 1-year-old. The Krimsky method showed +50 prism diopters in the primary gaz…

Ophthalmic presentations and long-term outcomes of subconjunctival and atypical orbital myocysticercosis.

PURPOSE: To study the clinical presentation, radiological features, diagnosis, and treatment response in subconjunctival and atypical orbital myocysticercosis. METHODS: Retrospective analysis of diagnosed subconjunctival and atypical (strabismus, diplopia, and blepharoptosis) orbital myocysticercosis was performed. A diagnostic criterion (2 of the 3) among clinical features, radiological findings, and treatment response was used in our study. A minimum of "post-treatment" follow-up of 12 months was observed. RESULTS: Thirty-five patients were included with a mean age of 16 years having male …

A Novel PUS1 Mutation in 2 Siblings with MLASA Syndrome: A Review of the Literature.

ABSTRACT: Myopathy, lactic acidosis, and sideroblastic anemia (MLASA) is a rare mitochondrial disorder characterized by MLASA. Variable feat … is, failure to thrive, developmental delay, and chronic diarrhea; in addition, the older sister has strabismus and skeletal anomalies. The sequencing of the PUS1 gene revealed a novel homozygous p.Glu311* mutation. The phenotype of the older sibling is also unique because of the strabismus and skeletal anomalies, when compared with her sister and other previ …

Association between esodeviation and primary open-angle glaucoma: the 2010-2011 Korea National Health and Nutrition Examination Survey.

BACKGROUND/AIMS: To evaluate the association between strabismus and primary open-angle glaucoma (POAG) in a representative Korean population. METHODS: A total of 11 114 participants aged 20 years or older in the Korea National Health and Nutrition Examination Survey database for the years 2010 through 2011 were reviewed. A standardised protocol was used to interview every participant and to perform comprehensive ophthalmic examinations. Glaucoma diagnosis was based on fundus photography and frequency-doubling technology perimetry results, according to the International Society of Geographical…

Ocular findings of albinism in DYRK1A-related intellectual disability syndrome.

BACKGROUND: Pathogenic variants in DYRK1A are associated with DYRK1A-related intellectual disability syndrome (DIDS). Common features of this diagnosis include microcephaly, intellectual disability, speech impairment, and distinct facial features. Reported ocular features include deep-set eyes, myopia, and strabismus. We present a case of DYRK1A-related intellectual disability syndrome with ocular findings of albinism and explore the possible pathogenesis of this previously unreported manifestation. MATERIALS AND METHODS: This is a single, retrospective case report of a child with DIDS who un…