Related Experiment Video
Updated: Mar 16, 2026
08:38
Electroretinogram Recording for Infants and Children under Anesthesia to Achieve Optimal Dark Adaptation and International Standards
Published on: September 3, 2020
6.7K
[Extensive yellowish fundus changes in a 6-year-old child]
S Gottwalt1, A Bergmann2, M Kautza-Lucht2
1Universitätsaugenklinik, UKSH Campus Kiel, Arnold-Heller-Str. 3, 24105, Kiel, Deutschland. stefan.gottwalt@uksh.de.
Summary
Molecular genetics diagnosed autosomal recessive bestrophinopathy (ARB) in a young girl with vision loss. Over 22 months, she showed slight visual recovery and reduced subretinal deposits.
Area of Science:
- Ophthalmology
- Medical Genetics
- Retinal Diseases
Background:
- Autosomal recessive bestrophinopathy (ARB) is a rare inherited retinal disorder.
- Early diagnosis is crucial for managing potential vision impairment.
Observation:
- A 6-year-old girl presented with best corrected visual acuity of 0.6 in both eyes.
- Clinical examination revealed yellowish subretinal lesions in the macula and around the vessel arcade.
- Angiography showed no signs of vasculitis or abnormal vessels; fundus autofluorescence was marked, and SD-OCT revealed subretinal hyperreflective masses.
Findings:
- Molecular genetics confirmed the diagnosis of autosomal recessive bestrophinopathy (ARB).
- Over a 22-month follow-up, the patient exhibited a slight improvement in visual acuity.
- A reduction in subretinal deposits was also observed during the follow-up period.
Implications:
- This case highlights the utility of molecular genetics in diagnosing ARB.
- The findings suggest a potential for visual recovery and reduction of lesions in ARB patients.
- Further research into the natural history and treatment of ARB is warranted.
Keywords:
Autosomal recessive bestrophinopathy (ARB)BEST1Intraretinal cystsMolecular geneticsYellowish subretinal depositsMore Related Videos
Related Concept Videos
01:24Upper GI Series: Barium Swallow
2.1K
The Barium Swallow Study, or a Barium Esophagogram, is a diagnostic imaging method used to visualize the upper gastrointestinal (GI) tract, including the esophagus, stomach, and small intestine. It employs barium sulfate, a radiopaque contrast material, to provide clear images of the upper digestive system, helping to identify abnormalities, diseases, or structural issues.
Purpose and Procedure
Patients undergoing this procedure ingest a liquid containing barium sulfate with a chalky...
Purpose and Procedure
Patients undergoing this procedure ingest a liquid containing barium sulfate with a chalky...
2.1K
01:23Pharmacokinetics in Pediatric Patients: Overview and Drug Absorption
641
Understanding the physiological differences in the pediatric population is crucial for effective pharmacotherapy. Neonates, infants, and children exhibit significant variations in gastric pH, gastric emptying time, intestinal transit time, and biliary function. These variations profoundly affect oral drug absorption, necessitating a nuanced approach to pediatric dosing.Neonates present with a unique physiological profile, having a gastric pH greater than 4 and faster and more irregular gastric...
641
01:25Assessment of the Rectum and Anus
1.6K
Evaluating the rectum and anus plays a crucial role in conducting a thorough physical examination of the gastrointestinal system. Although it may be uncomfortable and often embarrassing for the patient, it holds immense diagnostic value, particularly in detecting gastrointestinal diseases and abnormalities. This guide will explain how to perform this assessment using inspection and palpation methods.
Rectal Inspection
Begin by inspecting the perianal and anal areas for color, texture, rashes,...
Rectal Inspection
Begin by inspecting the perianal and anal areas for color, texture, rashes,...
1.6K