scholarly journals Overview on Ocular Manifestations of Albinism- A Review

2021 ◽  
pp. 300-308
Author(s):  
Abdulrahman M. Albahlool ◽  
Fatema Adel Almajed ◽  
Maryam Essa Alwabari ◽  
Rana Mohammed Hilmi ◽  
Reem Mohammed Saad Abahussain ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Hair Follicles ◽  
Melanin Synthesis ◽  
Head Posture ◽  
Ocular Manifestations ◽  
Eye Symptoms ◽  
Foveal Hypoplasia

Albinism is a set of heritable disorders in ectoderm-derived tissue linked with reduced or missing melanin. Reduce melanin synthesis might include the skin, hair follicles and the eye, causing eyelid or locating the eye in the main, leading to eye albinism. Common eye symptoms include foveal hypoplasia, fundal hypopigmentation, iris transillumination, nystagma, visual acuity reduction, stereopsis decreased or absent, squint, and abnormalities in refractive functionality. Fixing the refractive defect, sun glasses or specific photo aversion filter lenses and prismatism for an irregular head posture may be needed. Operation with strabismus is typically unneeded but may be done to enhance the peripheral fields of visual fusion. In this review, we summarize ocular manifestations of albinism.

An Unusual Phenotype in Dutch Patients With Oculocutaneous Albinism Type 4: Evident Hypopigmentation Without Other Ocular Deficits.

2021 ◽  
Author(s):  
Charlotte C Kruijt ◽  
Nicoline E Schalij-Delfos ◽  
Gerard C de Wit ◽  
Ralph F Florijn ◽  
Maria M van Genderen
Keyword(s):  
Visual Acuity ◽  
Visual Pathways ◽  
Oculocutaneous Albinism ◽  
Novel Mutations ◽  
Normal Visual Acuity ◽  
Diagnostic Center ◽  
Foveal Hypoplasia ◽  
Unusual Phenotype ◽  
First Time ◽  
Dutch Cohort

Abstract Purpose: To describe the phenotype of Dutch patients with oculocutaneous albinism type 4 (OCA4).Patients and Methods: We collected data on pigmentation (skin, hair, and eyes), visual acuity (VA), nystagmus, foveal hypoplasia, chiasmal misrouting, and molecular analyses of nine Dutch OCA4 patients from the Bartiméus Diagnostic Center for complex visual disorders.Results: All patients had severely reduced pigmentation of skin, hair, and eyes with iris transillumination over 360 degrees. Three unrelated OCA4 patients had normal VA, no nystagmus, no foveal hypoplasia, and no misrouting of the visual pathways. Six patients had poor visual acuity (0.6 to 1.0 logMAR), nystagmus, severe foveal hypoplasia and misrouting. We found two novel mutations in the SLC45A2 gene, c.310C>T; p.(Pro104Ser), and c.1368+3_1368+9del p.(?).Discussion: OCA4 patients of this Dutch cohort all had hypopigmentation of skin, hair, and iris translucency. However, patients were either severely affected with regard to visual acuity, foveal hypoplasia, and misrouting, or visually not affected at all. We describe for the first time OCA4 patients with an evident lack of pigmentation, but normal visual acuity, normal foveal development and absence of misrouting. This implies that absence of melanin does not invariably lead to foveal hypoplasia and abnormal routing of the visual pathways.

scholarly journals Dry eye syndrome and cataract surgery

2019 ◽  
Vol 72 (3-4) ◽  
pp. 105-109
Author(s):  
Stefan Brunet ◽  
Vladimir Canadanovic ◽  
Nikola Babic ◽  
Aleksandar Miljkovic ◽  
Sandra Jovanovic ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Cataract Surgery ◽  
Dry Eye ◽  
Dry Eye Syndrome ◽  
Schirmer Test ◽  
Corrected Visual Acuity ◽  
Body Sensation ◽  
Eye Symptoms ◽  
Best Corrected Visual Acuity ◽  
Dry Eye Symptoms

Introduction. Dry eye syndrome has become a common problem after ocular surgeries with a significant impact on the quality of life. Many patients, who have undergone cataract surgery, postop?eratively developed dry eye symptoms. Dry eye syndrome is one of the risk factors associated with cataract surgery. Material and Methods. The prospective study included 80 patients. We recorded the self-reported dry eye symptoms, the values of Schirmer test, tear breakup time, and best corrected visual acuity preoperatively, as well as 7 days and 1 month after the surgery. Results. A total of 80 patients were included in the study, 45 (56.2%) females and 35 (43.8%) males. The mean age of patients was 61.5 years (SD ? 6.2, range 57 - 70 years). The best corrected visual acuity at the time of surgery was 0.4 or less in 70 patients (87.5%). Most patients reported a significant improvement in visual acuity after surgery; 68 (85%) eyes achieved a best corrected visual acuity of 0.5 or higher (median 0.7; range 0.5 - 1.0). The mean tear breaking time in cata?ract patients before surgery was 12.4 sec, 7 days after the surgery it was 8.2 sec (p < 0.05) and 1 moth after the surgery 11.1 sec. The majority of patients had mild (47.5%) and moderate (33.75%) Schirmer test values. Dry eye with wetting < 5 mm after 5 minutes was found in 16.2% of patients before cataract surgery; 7 days after the surgery (p < 0.05) it was found in 23.75% of patients and one month after surgery 11.1 sec. A foreign body sensation and watery eye were the most reported symptoms before cataract surgery. Seven days after the surgery foreign body sensation was present in 48.75% and watery eyes in 40% of patients. Conclusion. Significant increase in dry eye symptoms after cataract surgery was found with increasing age. Self reported dry eye problems are more common in patients with lower Schirmer test and best corrected visual acu?ity values before cataract surgery. Patients with concomitant dry eye disease require preoperative and postoperative treatment of dry eye to prevent aggravation of the existing symptoms that may affect the visual outcome after cataract surgery.

scholarly journals Absent Foveal Pit, Also Known as Fovea Plana, in a Child without Associated Ocular or Systemic Findings

2018 ◽  
Vol 2018 ◽  
pp. 1-5
Author(s):  
Laura Hernandez-Moreno ◽  
Natacha Moreno Perdomo ◽  
Tomas S. Aleman ◽  
Karthikeyan Baskaran ◽  
Antonio Filipe Macedo
Keyword(s):  
Optical Coherence Tomography ◽  
Visual Acuity ◽  
Caucasian Male ◽  
Corrected Visual Acuity ◽  
Abnormal Structure ◽  
Ophthalmologic Examination ◽  
Foveal Hypoplasia ◽  
Systemic Manifestations ◽  
The Right ◽  
Best Corrected Visual Acuity

The purpose of this report is to describe a case of bilateral foveal hypoplasia in the absence of other ophthalmological or systemic manifestations. We characterize the case of a 9-year-old Caucasian male who underwent full ophthalmologic examination, including functional measures of vision and structural measurements of the eye. Best corrected visual acuity was 0.50 logMAR in the right eye and 0.40 logMAR in the left eye. Ophthalmoscopy revealed a lack of foveal reflex that was further investigated. Optical coherence tomography (OCT) confirmed the absence of foveal depression (pit). OCT images demonstrated the abnormal structure of retina in a region in which we expected a fovea; these findings were decisive to determine the cause of reduced acuity in the child.

Correlation of Visual Acuity with Foveal Hypoplasia Grading by Optical Coherence Tomography in Albinism

Ophthalmology ◽  
2007 ◽  
Vol 114 (8) ◽  
pp. 1547-1551 ◽  
Author(s):  
Je Hyun Seo ◽  
Young Suk Yu ◽  
Jeong Hun Kim ◽  
Ho Kyung Choung ◽  
Jang Won Heo ◽  
...  
Keyword(s):  
Optical Coherence Tomography ◽  
Visual Acuity ◽  
Optical Coherence ◽  
Foveal Hypoplasia

scholarly journals The specific clinical features of congenital aniridia in the childhood

2016 ◽  
Vol 11 (3) ◽  
pp. 121-129 ◽  
Author(s):  
Anna Aleksandrovna Voskresenskaya ◽  
N. A Pozdeyeva ◽  
T. A Vasil'eva ◽  
O. V Khlebnikova ◽  
R. A Zinchenko
Keyword(s):  
Visual Acuity ◽  
Children And Adolescents ◽  
Newborn Infants ◽  
Federal State ◽  
Ophthalmological Examination ◽  
State Institute ◽  
Familial Type ◽  
Congenital Aniridia ◽  
Foveal Hypoplasia ◽  
And Gender

Aim. The objective of the present study was to elucidate the specific features of the clinical picture of congenital aniridia in the children and adolescents and determine the frequency of complications of this pathology in the Russian Federation. Materials and methods. The study involved 37 children and adolescents at the age below 18 years (74 eyes) who were recruited from 37 unrelated families and diagnosed as having congenital aniridia at the Cheboksarsky branch of S.N. Fedorov Federal State Institute of Eye Microsurgery. All the children underwent the comprehensive ophthalmological examination based at this institution that included determination of the patients’ age and gender, diagnostics of keratopathy, cataract and glaucoma, measurements of foveal hypoplasia and hypoplasia of the optical nerve. In addition, visual acuity (VA) and the type of refraction were determined, gonioscopy and central keratopachymetry were performed on each patient. Results. The age of the patients varied from 2 months to 18 years (median: 3 years). The familial type of inheritance of congenital aniridia was documented in 16 patients whereas sporadic cases of this pathology were detected in 21 (56.7%) children. Microcornea and microphthalmus occurred in 4 and 2 eyes respectively. WAGR syndrome was diagnosed in 9.5% of the patients presenting with sporadic aniridia. Visual acuity was estimated at => 0.1 in 52% of the cases; it was => 0.3 in three patients. Abnormal refraction was documented in 88.3% of the children, marked hypermetropia was diagnosed in 15% of the examined eyes. The signs of aniridic keratopathy in the newborn infants and young children(aged below 3 years) were found in 64% of the cases. The youngest age at which the signs of aniridic keratopathy were apparent was 14 months. Cataract of different severity was documented in 77% of the eyes, glaucoma in 22.6%, foveal hypoplasia in 94%, and nystagmus in 86.5% of the eyes. The thickness of the central cornel region in the children at the age from 6 months to 2 years was 635+-47 microns compared with 606+-43 microns in the patients from 3 to 18 years of age. Conclusion. Congenital aniridia is a progressive panocular pathology affecting various structures of the eye and leading to the impairment of the visual function from the very early life.

Spectral-domain optical coherence tomography foveal morphology as a prognostic factor for vision performance in congenital aniridia

2018 ◽  
Vol 30 (1) ◽  
pp. 58-65 ◽  
Author(s):  
Pilar Casas-Llera ◽  
Ana Siverio ◽  
Gemma Esquivel ◽  
Cristina Bautista ◽  
Jorge L Alió
Keyword(s):  
Optical Coherence Tomography ◽  
Visual Acuity ◽  
Outer Segment ◽  
Spectral Domain ◽  
Ophthalmological Examination ◽  
Optical Coherence ◽  
Corrected Visual Acuity ◽  
Congenital Aniridia ◽  
Foveal Hypoplasia ◽  
Best Corrected Visual Acuity

Background: Patients with congenital aniridia usually have some degree of foveal hypoplasia, thus representing a limiting factor in the final visual acuity achieved by these patients. The purpose of this study was to analyze whether the foveal morphology assessed by spectral-domain optical coherence tomography may serve as a prognostic indicator for best-corrected visual acuity in congenital aniridia patients. Methods: Observational two-center study performed between January 2012 and March 2017 in the pediatric ophthalmology department at Vissum Alicante and Vissum Madrid, Spain. A total of 31 eyes from 19 patients with congenital aniridia were included. After a complete ophthalmological examination, a high-resolution spectral-domain optical coherence tomography with a three-dimensional scan program macular protocol was used. A morphological grading system of foveal hypoplasia was used varying from grade 1 in which there is a presence of a shallow foveal pit, extrusion of inner retinal layers, outer nuclear layer widening, and a presence of outer segment lengthening to grade 4 in which none of these processes occur. Results: No correlation between central, mid-peripheral, and peripheral macular thickness and logMAR best-corrected visual acuity was found. The presence of outer segment lengthening was associated with better best-corrected visual acuity with a median best-corrected visual acuity, 0.30 logMAR, whereas the absence of this morphologic feature was associated with poorer VA with a median best-corrected visual acuity of 0.61 logMAR (p < 0.001). Conclusion: Foveal hypoplasia morphology can predict the best-corrected visual acuity. Specifically, the morphologic optical coherence tomography feature that is related to a better best-corrected visual acuity in congenital aniridia patients is the presence of outer segment lengthening.

scholarly journals Reading Performance and Compensatory Head Posture in Infantile Nystagmus after Null Zone Training

2019 ◽  
Vol 16 (23) ◽  
pp. 4728
Author(s):  
Norliza Mohamad Fadzil ◽  
Zainora Mohammed ◽  
Mizhanim Mohamad Shahimin ◽  
Noor Haziq Saliman
Keyword(s):  
Visual Acuity ◽  
Contrast Sensitivity ◽  
Visual Function ◽  
Reading Time ◽  
Reading Rate ◽  
Reading Performance ◽  
Head Posture ◽  
Infantile Nystagmus

This study aimed to assess the visual function, reading performance, and compensatory head posture (CHP) in schoolchildren with infantile nystagmus. A total of 18 participants aged between 13 to 18 years old were divided into spectacle (n = 9) and null zone group (n = 9) based on their visual acuity. Visual acuity (LogMAR), contrast sensitivity (Pelli–Robson), reading time and rate (Tobii TX300), and CHP were measured pre and post null zone reading training. Participants in the null zone group received 10 sessions of training (5 weeks). Visual acuity and contrast sensitivity of participants in the spectacle and null zone groups were not significantly different pre and post training. Reading performance, i.e., reading time (z = −1.36; p = 0.173) and reading rate (z = −0.06; p = 0.953), of participants in the spectacle group was not significantly different after 5 weeks. Reading time (z = −2.55; p = 0.011) and reading rate (z = −2.07; p = 0.038 of participants in the null zone group showed significant improvement post training. After 5 weeks, CHP improved in six out of the nine participants (66.7%) of the null zone group and was unchanged in all participants in the spectacle group. Null zone reading training could benefit children with infantile nystagmus in improving reading performance and compensatory head posture.

scholarly journals Ocular Rosacea: Treatment with Rifaximin, a Non-Systemic Antibiotic

2016 ◽  
Vol 1 (1) ◽  
Keyword(s):  
Gastrointestinal Symptoms ◽  
Bacterial Overgrowth ◽  
Small Intestinal Bacterial Overgrowth ◽  
Open Label ◽  
Dry Eyes ◽  
Corneal Ulcers ◽  
Ocular Manifestations ◽  
Mild Improvement ◽  
Ocular Rosacea ◽  
Eye Symptoms

Background: Rosacea is associated with Crohn’s disease, liver disease, chronic pancreatitis, achlorhydria, Helicobacter pylori and recently with idiopathic small intestinal bacterial overgrowth (SIBO). Two publications demonstrated that rifaximin, a non-absorbed, gut-directed antibiotic for SIBO led to improvement in facial rosacea. Ocular manifestations occur in up to 58% of rosacea patients and include dry eyes, foreign body sensation, photosensitivity, eyelid inflammation, neovascularization and corneal ulcers. Methods: Patients who had been diagnosed with ocular rosacea by four ophthalmologists were referred for SIBO testing using the lactulose breath test (LBT). All were refractory to rosacea therapy. An open-label, IRBapproved trial of rifaximin 550 mg/3x/day for 10-14 days was performed in LBT-positive subjects. Ten and twenty days after ending rifaximin, subjects were queried if their eye symptoms had marked, moderate or mild improvement or if they were unchanged. Results: Twenty four patients (21F/3M), mean age 59 with facial involvement in 4 were tested. The LBT was positive in 9/24 (38%). LBT-positive subjects had chronic gastrointestinal symptoms in 63% vs., 33% in LBTnegative subjects. Rifaximin was prescribed to 9 LBT-positive subjects. Insurance denied the prescription in one subject. One subject was lost was to follow up. Improvement in ocular rosacea symptoms was marked (4), moderate (1) and mild (2). Conclusions: Rifaximin therapy led to improvement in ocular rosacea in the setting of SIBO. Dysregulation of the innate immune system as a result of gastrointestinal inflammation could lead to an increase in systemic cytokines and microbial antigens/antibodies in the skin and eyelids leading to activation of rosacea.

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