Advancing Insights into Pediatric Macular Diseases: A Comprehensive Review

Pediatric macular disorders are a diverse group of inherited retinal diseases characterized by central vision loss due to dysfunction and degeneration of the macula, the region of the retina responsible for high-acuity vision. Common disorders in this category include Stargardt disease, Best vitelliform macular dystrophy, and X-linked retinoschisis. These conditions often manifest during childhood or adolescence, with symptoms such as progressive central vision loss, photophobia, and difficulty with fine visual tasks. Underlying mechanisms involve genetic mutations that disrupt photoreceptor and retinal pigment epithelium function, accumulating toxic byproducts, impaired ion channel activity, or structural degeneration. Advances in imaging modalities like optical coherence tomography and fundus autofluorescence have improved diagnostic accuracy and disease monitoring. Emerging therapies are transforming the treatment landscape. Gene therapy and genome editing hold promise for addressing the genetic basis of these disorders, while stem cell-based approaches and pharmacological interventions aim to restore retinal function and mitigate damage. Personalized medicine, driven by genomic sequencing, offers the potential for tailored interventions. Despite current challenges, ongoing research into molecular mechanisms, advanced imaging, and innovative therapies provides hope for improving outcomes and quality of life in children with macular disorders.

• Publication year

  2025

• Venue

  Journal of Clinical Medicine

• Publication date

  2025-01-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.3390/jcm14020614PMID 39860622PMCID 11765775
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, leber congenital amaurosis, and cone dysfunction syndromes.

  2024cited by this paper
• Best Vitelliform Macular Dystrophy Natural History Study Report 1

  2024cited by this paper
• Nystagmus Characteristics in Albinism: Unveiling the Link to Foveal Hypoplasia and Visual Acuity

  2023cited by this paper
• A Description of the Yield of Genetic Reinvestigation in Patients with Inherited Retinal Dystrophies and Previous Inconclusive Genetic Testing

  2023cited by this paper
• Long-term functional and structural outcomes in X-linked retinoschisis: implications for clinical trials

  2023cited by this paper
• Multimodal Phenomap of Stargardt Disease Integrating Structural, Psychophysical, and Electrophysiologic Measures of Retinal Degeneration

  2023cited by this paper
• Best Disease

  2022cited by this paper
• The retinal pigmentation pathway in human albinism: Not so black and white.

  2022cited by this paper
• Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies

  2022cited by this paper
• Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity.

  2022cited by this paper
• Three-year safety results of SAR422459 (EIAV-ABCA4) gene therapy in patients with ABCA4-associated Stargardt disease: An open-label dose-escalation phase I/IIa clinical trial, cohorts 1-5.

  2022cited by this paper
• ISCEV Standard for full-field clinical electroretinography (2022 update)

  2022cited by this paper
• Intravitreal Delivery of rAAV2tYF-CB-hRS1 Vector for Gene Augmentation Therapy in X-linked Retinoschisis - 1 Year Clinical Results.

  2022cited by this paper
• Automatic Segmentation in Multiple OCT Layers For Stargardt Disease Characterization Via Deep Learning

  2021cited by this paper
• Stargardt disease: Multimodal imaging: A review

  2021cited by this paper
• Genetic causes of nystagmus, foveal hypoplasia and subnormal visual acuity- other than albinism

  2021cited by this paper
• Molecular diagnosis based on comprehensive genetic testing in 800 Chinese families with non‐syndromic inherited retinal dystrophies

  2020cited by this paper
• Carbonic anhydrase inhibition in X-linked retinoschisis: An eye on the photoreceptors.

  2020cited by this paper
• Randomised study evaluating the pharmacodynamics of emixustat hydrochloride in subjects with macular atrophy secondary to Stargardt disease

  2020cited by this paper
• Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9‐year period

  2020cited by this paper
• Long-term safety and tolerability of subretinal transplantation of embryonic stem cell-derived retinal pigment epithelium in Asian Stargardt disease patients

  2020cited by this paper
• A novel GPR143 mutation in a Chinese family with X-linked ocular albinism type 1

  2019cited by this paper
• Extracting the ON and OFF contributions to the full-field photopic flash electroretinogram using summed growth curves.

  2019cited by this paper
• One-year pilot study on the effects of nitisinone on melanin in patients with OCA-1B

  2019cited by this paper
• Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy

  2019cited by this paper
• Best vitelliform macular dystrophy in a large Brazilian family

  2019cited by this paper
• Conversations with Ray Guillery on albinism: linking Siamese cat visual pathway connectivity to mouse retinal development

  2019cited by this paper
• Correlation between electroretinography, foveal anatomy and visual acuity in albinism

  2019cited by this paper
• Carbonic anhydrase inhibitors in patients with X-linked retinoschisis: effects on macular morphology and function

  2019cited by this paper
• Large, Spontaneous Macular Hole with Posterior Pole Detachment in a Patient with Best Vitelliform Macular Dystrophy

  2019cited by this paper
• Optical Coherence Tomography Angiography Imaging in Inherited Retinal Diseases

  2019cited by this paper
• Retinal Function in X-Linked Juvenile Retinoschisis.

  2019cited by this paper
• Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options

  2019cited by this paper
• Treat Oculocutaneous Albinism with Gene Therapy

  2018cited by this paper
• Stargardt Disease.

  2018cited by this paper
• Macular hole-associated retinal detachment in Best vitelliform dystrophy: Series of two cases and literature review

  2018cited by this paper
• Prospective Evaluation of Patients With X-Linked Retinoschisis During 18 Months

  2018cited by this paper
• Clinical and Mutation Analysis of Patients with Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy in Chinese Population

  2018cited by this paper
• Retinal AAV8-RS1 Gene Therapy for X-Linked Retinoschisis: Initial Findings from a Phase I/IIa Trial by Intravitreal Delivery.

  2018cited by this paper
• Transplantation of Human Embryonic Stem Cell-Derived Retinal Pigment Epithelial Cells in Macular Degeneration

  2018cited by this paper
• Optical coherence tomography angiography characterisation of Best disease and associated choroidal neovascularisation

  2017cited by this paper
• Bestrophin 1 and retinal disease.

  2017influential reference
• VISUAL ACUITY IN PATIENTS WITH STARGARDT DISEASE AFTER AGE 40

  2017cited by this paper
• Juvenile Macular Degenerations.

  2017cited by this paper
• Fixation Location and Stability Using the MP-1 Microperimeter in Stargardt Disease: ProgStar Report No. 3.

  2017cited by this paper
• Vitelliform dystrophies: Prevalence in Olmsted County, Minnesota, United States

  2017cited by this paper
• The clinical evaluation of infantile nystagmus: What to do first and why

  2017cited by this paper
• Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options

  2016cited by this paper
• Carbonic Anhydrase Inhibitors for the Treatment of Cystic Macular Lesions in Children With X-Linked Juvenile Retinoschisis.

  2016cited by this paper
• INSIGHTS INTO AUTOSOMAL DOMINANT STARGARDT-LIKE MACULAR DYSTROPHY THROUGH MULTIMODALITY DIAGNOSTIC IMAGING

  2016cited by this paper
• Differentiation of murine models of “negative ERG” by single and repetitive light stimuli

  2016cited by this paper
• Human embryonic stem cell-derived retinal pigment epithelium in patients with age-related macular degeneration and Stargardt's macular dystrophy: follow-up of two open-label phase 1/2 studies.

  2015cited by this paper
• Synaptic pathology and therapeutic repair in adult retinoschisis mouse by AAV-RS1 transfer.

  2015cited by this paper
• Clinical Insights Into Foveal Morphology in Albinism.

  2015cited by this paper
• Early-onset stargardt disease: phenotypic and genotypic characteristics.

  2015influential reference
• Best disease associated with macular hole.

  2015cited by this paper
• Mutational Analysis of Oculocutaneous Albinism: A Compact Review

  2014cited by this paper
• Best vitelliform macular dystrophy: literature review

  2014influential reference
• Delayed neurogenesis leads to altered specification of ventrotemporal retinal ganglion cells in albino mice

  2014cited by this paper
• Increasing the complexity: new genes and new types of albinism

  2014cited by this paper
• Juvenile-onset macular degeneration and allied disorders.

  2014cited by this paper
• Best vitelliform macular dystrophy in a Swedish family: genetic analysis and a seven‐year follow‐up of photodynamic treatment of a young boy with choroidal neovascularization

  2014cited by this paper
• Does levodopa improve vision in albinism? Results of a randomized, controlled clinical trial

  2014influential reference
• Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes.

  2013cited by this paper
• An evidence-based review of vascular endothelial growth factor inhibition in pediatric retinal diseases: part 2. Coats' disease, best disease, and uveitis with childhood neovascularization.

  2013cited by this paper
• DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics

  2013cited by this paper
• Multimodal adaptive optics retinal imager: design and performance.

  2012cited by this paper
• Eye-Specific Projections of Retinogeniculate Axons Are Altered in Albino Mice

  2012cited by this paper
• Centrifugal expansion of fundus autofluorescence patterns in Stargardt disease over time.

  2012influential reference
• Lactate flux in astrocytes is enhanced by a non‐catalytic action of carbonic anhydrase II

  2012cited by this paper
• Frequency, genotype, and clinical spectrum of best vitelliform macular dystrophy: data from a national center in Denmark.

  2012cited by this paper
• X-linked retinoschisis: RS1 mutation severity and age affect the ERG phenotype in a cohort of 68 affected male subjects.

  2011cited by this paper
• PREFERENTIAL HYPERACUITY PERIMETER IN BEST VITELLIFORM MACULAR DYSTROPHY

  2011cited by this paper
• Anterior Segment Abnormalities and Angle-Closure Glaucoma in a Family with a Mutation in the BEST1 Gene and Best Vitelliform Macular Dystrophy

  2011cited by this paper
• THE USE OF CARBONIC ANHYDRASE INHIBITORS IN THE RETREATMENT OF CYSTIC MACULAR LESIONS IN RETINITIS PIGMENTOSA AND X-LINKED RETINOSCHISIS

  2011cited by this paper
• Arrested development: high-resolution imaging of foveal morphology in albinism.

  2010cited by this paper
• Evaluation of risk of falls and orthostatic hypotension in older, long-term topical beta-blocker users

  2009cited by this paper
• Natural History of Phenotypic Changes in Stargardt Macular Dystrophy

  2009cited by this paper
• Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene

  2009influential reference
• CLINICAL AND MOLECULAR GENETIC ANALYSIS OF BEST VITELLIFORM MACULAR DYSTROPHY

  2009cited by this paper
• Abnormal foveal morphology in ocular albinism imaged with spectral-domain optical coherence tomography.

  2009cited by this paper
• The spectrum of ocular phenotypes caused by mutations in the BEST1 gene.

  2009influential reference
• Retinal morphological changes of patients with X-linked retinoschisis evaluated by Fourier-domain optical coherence tomography.

  2008cited by this paper
• Synaptic pathology in retinoschisis knockout (Rs1-/y) mouse retina and modification by rAAV-Rs1 gene delivery.

  2008cited by this paper
• Choroidal neovascularisation secondary to Best’s disease in a 13-year-old boy treated by intravitreal bevacizumab

  2007cited by this paper
• Differential macular and peripheral expression of bestrophin in human eyes and its implication for best disease.

  2007cited by this paper
• Oculocutaneous albinism

  2007cited by this paper
• Novel de novo mutation in a patient with Best macular dystrophy.

  2006cited by this paper
• Evidence of genetic heterogeneity in MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome.

  2006cited by this paper
• Disease mechanisms and gene therapy in a mouse model for X-linked retinoschisis.

  2006cited by this paper
• Revision of visual impairment definitions in the International Statistical Classification of Diseases

  2006cited by this paper
• RS1, a Discoidin Domain-containing Retinal Cell Adhesion Protein Associated with X-linked Retinoschisis, Exists as a Novel Disulfide-linked Octamer*

  2005cited by this paper
• The role of carbonic anhydrase inhibitors in the management of macular edema

  2004cited by this paper
• A new phenotype of recessively inherited foveal hypoplasia and anterior segment dysgenesis maps to a locus on chromosome 16q23.2–24.2.

  2004cited by this paper
• Mutations of the XLRS1 gene cause abnormalities of photoreceptor as well as inner retinal responses of the ERG

  2004cited by this paper
• Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).

  2004cited by this paper
• Organization of the Visual Cortex in Human Albinism

  2003cited by this paper
• The gene for Stargardt disease, ABCA4, is a major retinal gene: a mini-review

  2003cited by this paper
• Photodynamic therapy with verteporfin for subfoveal choroidal neovascularization in best disease.

  2003cited by this paper
• Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure

  2002cited by this paper

• Decoding Pediatric Inherited Retinal Dystrophies: Bridging Genetic Complexity and Clinical Heterogeneity.

  2025cites this paper