-
Journal of Medical Genetics Jun 2019Jalili syndrome is a rare genetic disorder first identified by Jalili in Gaza. Amelogenesis imperfecta and cone-rode dystrophy are simultaneously seen in Jalili syndrome...
Jalili syndrome is a rare genetic disorder first identified by Jalili in Gaza. Amelogenesis imperfecta and cone-rode dystrophy are simultaneously seen in Jalili syndrome patients as the main and primary manifestations. Molecular analysis has revealed that the gene is responsible for this rare syndrome. Jalili syndrome has been observed in many countries around the world, especially in the Middle East and North Africa. In the current scoping systematic review we searched electronic databases to find studies related to Jalili syndrome. In this review we summarise the reported clinical symptoms, gene and protein structure, mutations, attempts to reach a genotype-phenotype correlation, the functional role of mutations, and epidemiological aspects of Jalili syndrome. In addition, we have analysed the reported mutations in mutation effect prediction databases in order to gain a better understanding of the mutation's outcomes.
Topics: Amelogenesis Imperfecta; Biomarkers; Cation Transport Proteins; Cone-Rod Dystrophies; Genetic Association Studies; Genetic Predisposition to Disease; Humans; Mutation; Phenotype
PubMed: 30705057
DOI: 10.1136/jmedgenet-2018-105716 -
Survey of Ophthalmology 2024Although there have been numerous innovations in the management of retinal detachment (RD) over the past decades, there is still limited understanding of the... (Review)
Review
Although there have been numerous innovations in the management of retinal detachment (RD) over the past decades, there is still limited understanding of the pathophysiological processes that take place before and after repair. Summarizing key concepts using animal studies may allow for a better assessment of common pre- and postoperative microstructural abnormalities in RD. We performed a systematic literature review on Ovid MEDLINE, EMBASE, and Cochrane Controlled Register of Trials from January 1968 to January 2022, searching animal or human studies reporting retinal histologic changes following primary or induced RD. Thirty-two studies were included. Main cellular events were summarized: photoceptor apoptosis occurs as early as 12 hours after RD and, although most cells survive, there is extensive remodeling. Outer segments progressively degenerate, while inner segments are reorganized. Rod and cone opsins are redistributed, and rod axons retract while cones undergo changes in shape. Second- and third-order neurons rearrange their dendritic processes, and Müller cells become hypertrophic, growing into the subretinal space. Finally, retinal pigment epithelium cells undergo a change in their morphology. Acknowledging critical morphologic changes following RD is crucial in understanding why anatomical and functional outcomes can vary. Insights from histological studies, together with high-resolution imaging, may be key in identifying novel biomarkers in RD.
Topics: Animals; Humans; Retinal Detachment; Retina; Retinal Cone Photoreceptor Cells; Retinal Degeneration
PubMed: 37652188
DOI: 10.1016/j.survophthal.2023.08.001 -
Brain Research Oct 2023Light is detected in the eye by three classes of photoreceptors (rods, cones, and intrinsically photosensitive retinal ganglion cells (ipRGCs)) that are each optimized... (Meta-Analysis)
Meta-Analysis Review
Light is detected in the eye by three classes of photoreceptors (rods, cones, and intrinsically photosensitive retinal ganglion cells (ipRGCs)) that are each optimized for a specific function and express a particular light-detecting photopigment. The significant role of short-wavelength light and ipRGCs in improving alertness has been well-established; however, few reviews have been undertaken to assess the other wavelengths' effects regarding timing and intensity. This study aims to evaluate the impact of different narrowband light wavelengths on subjective and objective alertness among the 36 studies included in this systematic review, 17 of which were meta-analyzed. Short-wavelength light (∼460-480 nm) significantly improves subjective alertness, cognitive function, and neurological brain activities at night, even for a sustained period (∼6h) (for λmax: 470/475 nm, 0.4 < |Hedges's g| < 0.6, p < 0.05), but except early morning, it almost does not show this effect during the day when melatonin level is lowest. Long-wavelength light (∼600-640 nm) has little effect at night, but significantly increases several measures of alertness at lower irradiance during the daytime (∼1h), particularly when there is homeostatic sleep drive (for λmax: ∼630 nm, 0.5 < |Hedges's g| < 0.8, p < 0.05). The results further suggest that melanopic illuminance may not always be sufficient to measure the alerting effect of light.
Topics: Circadian Rhythm; Sleep; Retinal Cone Photoreceptor Cells; Retinal Ganglion Cells; Retinal Rod Photoreceptor Cells
PubMed: 37364848
DOI: 10.1016/j.brainres.2023.148470 -
Ophthalmology Jul 2007To describe the genotype-phenotype correlation in a German family with a novel CRX mutation and to perform a comparative analysis of published cases. (Review)
Review
PURPOSE
To describe the genotype-phenotype correlation in a German family with a novel CRX mutation and to perform a comparative analysis of published cases.
DESIGN
Retrospective observational case series, systematic review, and comparative analysis of the literature.
PARTICIPANTS
Four related patients with progressive retinal degeneration.
METHODS
Mutation screening by single-strand polymorphism analysis and direct sequencing. Clinical examination included kinetic visual fields (VFs), 2-color threshold perimetry (2CTP), full-field electroretinography, fundus photography, optical coherence tomography, and fundus autofluorescence (FA) recording.
MAIN OUTCOME MEASURES
Visual fields, subjective and objective cone- and rod-specific function, fundus aspect, retinal stratification, and FA.
RESULTS
A novel heterozygous complex mutation (c.816delCACinsAA) in CRX predicting the substitution of 27 C-terminal amino acids by 44 novel amino acids, thus abolishing the OTX tail, was identified in a 2-generation family finally diagnosed with cone-rod dystrophy (CRD), which was confirmed by 2CTP. Patients presented with variability in progression, nystagmus, and nyctalopia. Most of the patients were hyperopic. Electroretinography recordings showed residual rod and mixed cone-rod responses in 2 of the subjects. Age-dependent VF losses followed funduscopic changes of progressive atrophy of the retinal pigment epithelium and neuroretina in the macula and midperiphery marked by disturbed FA. Optical coherence tomography showed decreased central retinal thickness. Comparative analysis of the 131 published data sets revealed 2 groups: patients with early and late onset.
CONCLUSIONS
We described a 2-generation family with a novel mutation in CRX. The resulting phenotype is that of CRD with variable age at onset and progression. The phenotype description of previously published cases is conclusive only for CRD.
Topics: Adult; Aged; Color Perception Tests; Disease Progression; Electroretinography; Female; Fundus Oculi; Genotype; Heterozygote; Homeodomain Proteins; Humans; Hyperopia; Male; Mutation; Night Blindness; Nystagmus, Pathologic; Open Reading Frames; Pedigree; Phenotype; Retina; Retinal Cone Photoreceptor Cells; Retinal Degeneration; Retinal Rod Photoreceptor Cells; Retrospective Studies; Tomography, Optical Coherence; Trans-Activators; Vision Disorders; Visual Field Tests; Visual Fields
PubMed: 17320181
DOI: 10.1016/j.ophtha.2006.10.034 -
Retina (Philadelphia, Pa.) Nov 2021To clarify the histologic basis of bacillary layer detachment (BALAD) through a review of the current literature and an analysis of retinal imaging.
PURPOSE
To clarify the histologic basis of bacillary layer detachment (BALAD) through a review of the current literature and an analysis of retinal imaging.
METHODS
The literature for previous reports of BALAD were reviewed. An analysis of retinal images was performed to support anatomical conclusions.
RESULTS
A total of 164 unique patients with BALAD on optical coherence tomography (OCT) were identified from the published literature. Twenty-two underlying etiologies, all associated with subretinal exudation, were identified. Forty-one different OCT terminologies were found. The defining OCT feature of BALAD was a split at the level of the photoreceptor inner segment myoid creating a distinctive intraretinal cavity. Resolution of BALAD was followed by a rapid restoration of the ellipsoid zone. Histology of age-related macular degeneration eyes suggests that individual photoreceptors can shed inner segments. Furthermore, detachment of the entire layer of inner segments is a common postmortem artifact. It is proposed that BALAD occurs when outwardly directed forces promoting attachment of photoreceptor outer segments to the retinal pigment epithelium exceed the tensile strength of the photoreceptor inner segment myoid.
CONCLUSION
This review serves to strengthen the OCT nomenclature "bacillary layer detachment," based on specific reflectance information obtained by OCT and previously published histologic observations.
Topics: Humans; Retinal Cone Photoreceptor Cells; Retinal Detachment; Retinal Rod Photoreceptor Cells; Terminology as Topic; Tomography, Optical Coherence
PubMed: 34029276
DOI: 10.1097/IAE.0000000000003217