Nanophthalmos is a clinical phenotype of simple microphthalmos, in which the anterior and posterior segments of the eyeball do not develop into a normal size without other major ocular or systemic anomalies. Typical clinical manifestations of nanophthalmos include short axial length, thickened sclera, small cornea, shallow anterior chamber, and increased lens-to-eye volume ratio. Currently, there is a lack of recognized diagnostic criteria for nanophthalmos. With the development of eye examination technologies, such as biological measurement and imaging examination, visualization and quantification of the eyeball's shape and structure in nanophthalmos can be realized. New clinical features have been reported, which are of great significance for diagnosing and treating nanophthalmos. This review introduces the related concepts of nanophthalmos and the new developments in its clinical characterization.
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http://dx.doi.org/10.1155/2021/8853811 | DOI Listing |
J Clin Med
December 2024
Division of Endocrinology, Diabetes and Metabolism, ENDO-ERN Center for Rare Pediatric Endocrine Disorders, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, Aghia Sophia Children's Hospital, 11527 Athens, Greece.
Kenny-Caffey syndrome 2 (KCS2) is a rare cause of hypoparathyroidism, inherited in an autosomal dominant mode, resulting from pathogenic variants of the gene, which is implicated in intracellular pathways regulating parathormone (PTH) synthesis and skeletal and parathyroid gland development. : The case of a boy is reported, presenting with the characteristic and newly identified clinical, biochemical, radiological, and genetic abnormalities of KCS2. : The proband had noticeable dysmorphic features, and the closure of the anterior fontanel was delayed until the age of 4 years.
View Article and Find Full Text PDFGenes (Basel)
December 2024
Department of Ophthalmology and Visual Sciences, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI 53226, USA.
: Disruption of results in microphthalmia with linear skin lesions (MLS) characterized by microphthalmia/anophthalmia, corneal opacity, aplastic skin lesions, variable central nervous system and cardiac anomalies, intellectual disability, and poor growth in heterozygous females. Structural variants consisting of chromosomal rearrangements or deletions are the most common variant type, but a small number of intragenic variants have been reported. : Exome sequencing identified variants affecting .
View Article and Find Full Text PDFSci Rep
December 2024
Department of Ophthalmology, Rajavithi Hospital and College of Medicine, Rangsit University, Bangkok, Thailand.
Relative anterior microphthalmos (RAM) is a rare ocular condition characterized by disproportionately small anterior segments but normal axial length (corneal diameter < 11 mm and axial length > 20 mm). This study aimed to determine the prevalence of RAM and its association with glaucoma utilizing IOL Master 700 data (Carl Zeiss Meditec, Jena, Germany). A retrospective analysis was conducted of the biometric parameters of 6,407 eyes, and 115 cases of RAM were identified.
View Article and Find Full Text PDFInt Ophthalmol
December 2024
Department of Ophthalmology, Chengdu First People's Hospital/ Chengdu Integrated TCM and Western Medicine Hospital, No.18 Wanxiang North Road, Chengdu, 610041, Sichuan Province, China.
Purposes: Congenital microphthalmia with orbital cyst (CMOC) is a severe ocular developmental malformation. This article aims to provide assistance for genetic counseling and further exploration of more effective treatments.
Methods: A combined systematic search of PubMed electronic database by using Boolean operators AND and OR was conducted, choosing the following keywords: "microphthalmos", "microphthalmia", "cyst", "morbidity", "congenital cystic eye", "histopathological", "molecular genetics", "syndrome", "treatment", "therapy", "surgery" and "surgical" etc.
BMJ Case Rep
December 2024
Department of Ophthalmology, Srinagarind Hospital, Khon Kaen University, Moung, Thailand.
A man in his early 20s was referred for refractive surgery evaluation. His best corrected distance visual acuity was 20/60 in both eyes. Preoperative manifest refraction was +13.
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