A Report on Children with CEP290 Mutation, Vision Loss, and Developmental Delay.

Mutations in CEP290, which encodes a centrosomal protein, cause Joubert syndrome, retinal dystrophy, and several other manifestations. Retinal dystrophy related to CEP290 mutation (Leber's congenital amaurosis type 10) presents with a severe visual impairment from birth, wandering eye movements, and oculodigital reflex. Fundus examination may initially be normal, but varying degrees of retinal pigmentation can be detected over time. This report presents 4 children who were referred to the ophthalmology clinic with a lack of eye contact and the suspicion of low vision. The ophthalmological examination revealed very poor visual function, the vision slightly improved over time, and enophthalmos became evident. There was neuromotor retardation in their history and mutations in the CEP290 gene were revealed in the whole-exome analysis. Both pediatricians and ophthalmologists should be aware of the coincidence between severe vision loss and neuromotor retardation and should refer patients for genetic testing if they suspect it. Genetic diagnosis will enable patients to be followed both neurologically and ophthalmologically and to benefit from rehabilitation opportunities that will contribute to visual and neurological development. It will also allow the family to receive genetic counseling on disease progression and heredity, and to follow ongoing gene therapy studies for mutations in the relevant gene.

Chromatographic Analysis of Aqueous Humor of Bupivacaine in Different Administration Approaches.

Different administration approaches were investigated for the selection of bupivacaine administration type and a sensitive high-performance liquid chromatographic (HPLC) method has been developed. Developed method was validated and applied for the determination of bupivacaine in rabbit aqueous humor. The separation was achieved using a XTerra, C8 (250 × 8 mm i.d., particle size 5 µm) analytical column with a mobile phase consisted of acetonitrile and sodium dihydrogen phosphate (pH = 3.0, 20 mM; 30:70, v/v). Bupivacaine detection was performed by Diode Array detector (DAD) at 220 nm. The retention times for bupivacaine is 15.886 min. HPLC-DAD method was linear in the range of 75-4000 ng/mL. The limit of detection was 25 ng/mL and the limit of quantification of bupivacaine was found to be 75 ng/mL (relative standard deviation, RSD ≤ 15%, n = 6). In intra-day and inter-day precision and accuracy analysis, the RSD was found to be in the range of 0.96 and 7.98%, the bias values were 0.64 and 3.33%. Method was carried out for three different type of bupivacaine application because of the investigation of effective drug administration. Twenty aqueous humor samples were in the range of 0.642 and 5.124 µg/mL.

Chickenpox Associated Retinitis and Occlusive Vasculitis in a Vaccinated Child: A Case Report and Literature Review.

Either retinitis and occlusive vasculitis are rare but vision threatening ocular complications of chickenpox in children. In this case report a 13-year-old girl who developed chickenpox 2 days before complaining with visual loss in her right eye is presented. She was vaccinated one dose of varicella zoster virus (VZV) vaccine when she was 12 months old. Best corrected visual acuity was counting fingers at 1.5 m in right eye. A subtle anterior segment inflammation and mild vitritis were observed. Fundoscopic examination of right eye showed ischemia in paracentral macula and white foci of retinitis along the superotemporal branch of retinal vessels. She was hospitalized and intravenous acyclovir treatment at 3 × 10 mg/kg daily dose was started. Serum IgM and IgG for VZV were positive. Aqueous humor PCR test was also reported positive for VZV DNA. Oral methylprednisolone was added at a dose of 64 mg/day at the 3rd day acyclovir treatment. Macular edema developed at 4th week of treatment and bevacizumab was administered intravitreally. After 3 injections retinal edema subsided completely. At 6-month follow-up retinal ischemia in superotemporal periphery was observed and photocoagulation was added to treatment.

Diplopia due to acquired Brown syndrome after COVID-19 infection.

Coronavirus disease 2019 (COVID-19) is a multisystem, inflammatory condition usually presenting with respiratory symptoms, such as fever, shortness of breath, and severe cough. It may also present with ocular, neurological, and musculoskeletal manifestations. However, since the emergence of the disease in 2019, only a few cases with ocular involvement have been reported in the literature. We present a case of acquired Brown syndrome secondary to COVID-19.

Demographic, ocular and associated neurological findings in corpus callosum malformations.

BACKGROUND: The corpus callosum is a primary commissural part of the brain which connects the two hemispheres. Processing sensory, motor, visuo-motor and cognitive functions are related to a healthy connection. In this study, we aimed to evaluate the ocular, neurologic and other systemic findings of corpus callosum malformations and to focus on the association between the ocular and neurological findings and the type of callosal malformation according to cranial magnetic resonance imaging (MRI). METHODS: A retrospective chart review of 57 patients with corpus callosum malformation was performed. Demographic features, neurologic, ocular and other systemic findings were noted. Patients were divided into 3 groups according to the severity of corpus callosum malformation on MRI (total agenesis, partial agenesis and hypoplasia) and also evaluated as a part of a genetic disorder/syndrome or not. The differences between demographic features, ocular and neurological findings between these 3 groups and also between syndromic and non-syndromic groups were evaluated statistically. RESULTS: Only 35.1% of patients had fixation and following pattern of visual acuity. Anterior segment pathologies were observed in 6.9% of patients. However, 57.9% of patients had posterior segment malformations. Only 19.3% of patients had a normal ocular alignment. There was no statistically significant difference of demographic features, ocular and neurologic findings between the 3 groups or between the syndromic/non-syndromic groups. CONCLUSIONS: Ocular findings can be reliable depending on the severity of the corpus callosum malformations. However, delay in fixation reflex development or loss of fixation should remind us of central nervous system pathologies especially corpus callosum malformations.

Ophthalmologic approach to babies with cerebral visual impairment.

BACKGROUND: Cerebral visual impairment (CVI) is an increasingly common type of visual disturbance in infants and children. The increased incidence is associated with improved neonatal intensive care services and survival of premature infants, especially in developed countries and our country. For accurate ophthalmological evaluation, it is important to know the behavioral responses to visual stimuli that are unique to CVI such as color preference, need for movement, visual latency, visual field preference, and difficulty in visual complexity. METHODS: This review is prepared to draw attention to the subject within the scope of Ankara University Vision, Artificial Vision and Low Vision Rehabilitation training programs. RESULTS: The most common causes are hypoxia and perinatal ischemia. Ocular structures are generally normal or are not sufficient to explain the visual impairment. Diagnosis and habilitation methods differ from visual impairment of ocular origin. As a result, early diagnosis of CVI in infants and toddlers and an effective visual habilitation with a multidisciplinary approach where ophthalmologists and pediatricians lead the team is very valuable. CONCLUSIONS: Early diagnosis and early visual habilitation will increase the quality of life of babies and will provide important gains for families and therefore the whole society. Pediatricians should be familiar with this group of disturbances and the available resources, as they are best placed to refer the child for evaluation and rehabilitation and encourage the family for follow-up.

Ocular vascular changes during pregnancy: an optical coherence tomography angiography study.

BACKGROUND: Pregnancy is a period presenting with many physiological adaptation mechanisms. One of the structures in which these mechanisms are observed is ocular tissues. The cornea, lacrimal and meibomian glands, and chorioretinal complex are all among the structures affected by changes during pregnancy. In this study we aimed to evaluate the macular and optic disc vessel density (VD) changes by Optical Coherence Tomography Angiography (OCTA) imaging in pregnancy. METHODS: A total of 248 eyes from 124 pregnant women and 80 eyes from 40 healthy control women were involved. Vessel densities of macula were evaluated for superficial capillary plexus (SCP) and deep capillary plexus (DCP) in whole macula, foveal, parafoveal and perifoveal region. Peripapillary and whole optic disc VDs were also evaluated. Vessel densities of macula and optic disc were compared between control individuals and pregnant women. Vessel densities in different trimesters were also evaluated. RESULTS: Modest but significant differences in VDs of whole macula of SCP and DCP were observed in pregnancy group. Additionally, perifoveal and parafoveal region of SCP, whole disc and radial peripapillary capillary VD were significantly higher in pregnancy group. There was no correlation between VD ratios of macula and optic disc and pregnancy weeks and trimesters. CONCLUSIONS: This is the first study focusing on the OCTA parameters in pregnant individuals. These findings suggest that physiological changes during pregnancy are not limited to the cornea, eyelids and the choroid but also to the retinal and optic disc vasculature.

Comparison of Surgical Success for Infantile Esotropia and Strabismus Associated with Neurological Impairment.

PURPOSE: Surgery for strabismus associated with neurological impairment is assumed to have unsatisfactory results in comparison with other strabismus cases. The aim of this study is to compare the surgical success rates of infantile esotropia (IE) and strabismus associated with neurological impairment. METHODS: The records of 103 patients that received operations for IE and strabismus associated with neurological impairment between January 1994 and May 2014 were reviewed retrospectively. The angles of deviation and surgical success rates were evaluated at preoperative, 1-month postoperative, and 24-month postoperative visits. RESULTS: Forty-five patients received operations for strabismus associated with neurological impairment (25 patients with esotropia and 20 patients with exotropia) and 58 patients for IE. Mean preoperative angles of deviation in cases with neurological impairment were 42 prism diopters (PD) for esotropia, 44.7 PD for exotropia, and 44.4 PD for IE. One patient from each group had consecutive deviation at first visit, and at last visit, 3 patients with neurological impairment and 5 patients with IE had consecutive deviations. Surgical success rates at the end of the second year were 52% for esotropia and 50% for exotropia in patients with neurological impairment and 56.8% for IE cases. CONCLUSION: This study was unable to find the differences between surgical success rates in IE and strabismus associated with neurological impairment.