Last update 01 Nov 2024

Retinal Dysplasia

Last update 01 Nov 2024

Basic Info

Synonyms

Dysplasia, Retinal, Dysplasias, Retinal, Retinal Dysplasia

+ [13]

Introduction

Congenital, often bilateral, retinal abnormality characterized by the arrangement of outer nuclear retinal cells in a palisading or radiating pattern surrounding a central ocular space. This disorder is sometimes hereditary.

Drugs associated with Retinal Dysplasia

Retinalamin

Target-

Mechanism-

Active Org.

Geropharm LLC

Originator Org.

Geropharm LLC

Active Indication

Diabetic Retinopathy [+2]

Inactive Indication-

Drug Highest PhaseApproved

First Approval Ctry. / Loc.

First Approval Date01 Jan 2008

Timrepigene emparvovec

Target

REP1

Mechanism

REP1 stimulants [+1]

Active Org.

Biogen, Inc. [+2]

Originator Org.

University of Oxford

Active Indication

Choroideremia [+2]

Inactive Indication-

Drug Highest PhasePhase 3

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

SPK-7001

Target

REP1

Mechanism

REP1 stimulants [+1]

Active Org.

The Children's Hospital of Philadelphia [+2]

Originator Org.

The Children's Hospital of Philadelphia

Active Indication

Retinal Dysplasia

Inactive Indication

Choroideremia [+1]

Drug Highest PhasePhase 2

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

Clinical Trials associated with Retinal Dysplasia

ACTRN12623001174673 / RecruitingNot ApplicableIIT

Assessing cardiovascular risk by integrating retinal photography and artificial intelligence at primary care settings

Start Date19 Jun 2023

Sponsor / Collaborator-

CTRI/2022/12/047921 / Not yet recruitingNot ApplicableIIT

Changes in ocular biomechanics following vitreoretinal surgery and its effect on intraocular pressure measurement using different modalities.

Start Date10 Dec 2022

Sponsor / Collaborator-

NTR7204 / SuspendedNot ApplicableIIT

Prospective clinical evaluation of inherited retinal diseases

Start Date01 Aug 2018

Sponsor / Collaborator

Radboud University Medical Center

100 Clinical Results associated with Retinal Dysplasia

100 Translational Medicine associated with Retinal Dysplasia

0 Patents (Medical) associated with Retinal Dysplasia

487

Literatures (Medical) associated with Retinal Dysplasia

24 Jul 2024·Journal of Vision

Illusory light drives pupil responses in primates

Article

Author: De Castro, Vanessa ; Marchand, Sarah ; Nasres, Ilyas ; Laeng, Bruno ; Durand, Jean-Baptiste

In humans, the eye pupils respond to both physical light sensed by the retina and mental representations of light produced by the brain. Notably, our pupils constrict when a visual stimulus is illusorily perceived brighter, even if retinal illumination is constant. However, it remains unclear whether such perceptual penetrability of pupil responses is an epiphenomenon unique to humans or whether it represents an adaptive mechanism shared with other animals to anticipate variations in retinal illumination between successive eye fixations. To address this issue, we measured the pupil responses of both humans and macaque monkeys exposed to three chromatic versions (cyan, magenta, and yellow) of the Asahi brightness illusion. We found that the stimuli illusorily perceived brighter or darker trigger differential pupil responses that are very similar in macaques and human participants. Additionally, we show that this phenomenon exhibits an analogous cyan bias in both primate species. Beyond evincing the macaque monkey as a relevant model to study the perceptual penetrability of pupil responses, our results suggest that this phenomenon is tuned to ecological conditions because the exposure to a "bright cyan-bluish sky" may be associated with increased risks of dazzle and retinal damages.

01 May 2024·European Journal of Ophthalmology

The contribution of indocyanine green angiography in a case of unilateral retinal pigment epithelium dysgenesis

Article

Author: Monferrer Adsuara, Clara ; Montero-Hernández, Javier ; Cervera-Taulet, Enrique ; Pulido, Jose S

Purpose To further enhance understanding of the expanded clinical spectrum of unilateral retinal pigment epithelium dysgenesis (URPED) via numerous imaging modalities including novel markers of highly detailed indocyanine green angiography (ICGA) features. Methods Retrospective, observational, case report. Results URPED in this patient is expressed as a solitary, flat and pigmented lesion in the posterior pole with RPE hyperplasia and atrophic changes. An epiretinal membrane (ERM) causing fine, tortuous retinal vessels and retinal folds was observed. Green and blue excitation light fundus autofluorescence showed a biphasic appearance with hypoautofluorescent rounded lesions and a reticular configuration of normal RPE. Fundus fluorescein angiography revealed diffuse hypofluorescence and hyperfluorescent wisps of leakage in late-phases. Early-phase of ICGA evidenced diffuse hypocianescence and a delineated hypercianescent scalloped margin appeared in the late-phase, together with focal hypocianescent spots. SD-OCT demonstrated irregularity of the RPE with fibrosis and hyperplastic changes combined with atrophic areas. Flat RPE detachments intermingled with healthy-appearing RPE were also observed together with thinning of the outer retina. ERM with thickening and disorganization involving the whole retina was present. Optical coherence tomography angiography (14 × 14 mm) revealed an oval shape foveal avascular zone and vascular anomalies such as tortuosity and looping. Conclusion URPED is an extremely rare clinical entity with only a few cases reported. In this case the almost pathognomonic differential features of URPED were best appreciated with ICGA imaging. To our knowledge, this is the first reported case of URPED with these abnormal findings on ICGA meaning it could be part of the spectrum of the disease.

01 Mar 2024·Experimental Cell Research

Loss-of-function of kinesin-5 KIF11 causes microcephaly, chorioretinopathy, and developmental disorders through chromosome instability and cell cycle arrest

Article

Author: Zhang, Jing-Lian ; Wang, Xin-Yao ; Zhou, Yi ; Huang, Min-Hui ; Chen, Jie ; Wei, Ya-Lan ; Xu, Meng-Fei ; She, Zhen-Yu

Kinesin motors play a fundamental role in development by controlling intracellular transport, spindle assembly, and microtubule organization. In humans, patients carrying mutations in KIF11 suffer from an autosomal dominant inheritable disease called microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR). While mitotic functions of KIF11 proteins have been well documented in centrosome separation and spindle assembly, cellular mechanisms underlying KIF11 dysfunction and MCLMR remain unclear. In this study, we generate KIF11-inhibition chick and zebrafish models and find that KIF11 inhibition results in microcephaly, chorioretinopathy, and severe developmental defects in vivo. Notably, loss-of-function of KIF11 causes the formation of monopolar spindle and chromosome misalignment, which finally contribute to cell cycle arrest, chromosome instability, and cell death. Our results demonstrate that KIF11 is crucial for spindle assembly, chromosome alignment, and cell cycle progression of progenitor stem cells, indicating a potential link between polyploidy and MCLMR. Our data have revealed that KIF11 inhibition cause microcephaly, chorioretinopathy, and development disorders through the formation of monopolar spindle, polyploid, and cell cycle arrest.

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Retinal Dysplasia

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