Rare pediatric retinal diseases: A review

Abstract

Rare pediatric retinal disorders present significant challenges in diagnosis and management due to their limited prevalence and diverse clinical manifestations. This paper provides a comprehensive review of select rare retinal disorders affecting the pediatric population, focussing a brief on their epidemiology, clinical characteristics, diagnostic modalities, and therapeutic interventions. Through a systematic examination of current literature and clinical case studies, this review aims to elucidate the distinct features and challenges associated with each disorder. Despite the rarity of these conditions, their impact on visual function and quality of life necessitates heightened awareness among clinicians and researchers to facilitate timely diagnosis, appropriate management, and improved outcomes for affected children as their visual systems are still developing. Furthermore, advancements in diagnostic modalities such as fundus fluorescein angiography, optical coherence tomography, electroretinography, and genetic testing are examined for their role in enhancing our understanding of rare pediatric retinal disorders and facilitating early intervention strategies. The literature selection for this article was conducted through PubMed, Google Scholar, and the Cochrane Library databases. A thorough systematic search was carried out for the concerned diseases. Relevant review articles, original research studies, case series, and reports were examined. Additionally, references from these sources were reviewed and included if they provided pertinent information on the topic. The search was not restricted by publication date.

Keywords: Coats disease; familial exudative vitreoretinopathy; incontinentia pigmenti; inherited diseases; pediatric retinal diseases; pediatric uveitis; persistent fetal vasculature; retinoschisis; shaken baby syndrome; sticklers; tumors.

Figure 1

(a) Fundus photography (Optos®, UK) shows subretinal exudates involving macula, suggestive of Stage 2B Coats’ disease. (b) Fluorescein angiography shows peripheral nonperfusion (asterisk), retinal vascular leakage, and vascular telangiectasias (white arrowhead) with focal aneurysms (white arrow) in the periphery. (c) The contralateral eye shows peripheral nonperfusion areas (asterisk)

Figure 2

Fundus in FEVR (a) Stage 1 with temporal peripheral avascular retina (PAR) (arrows), (b) Stage 2B: Extraretinal neovascularization (NV) with exudation (arrow), (c) Stage 3A: Subtotal tractional retinal detachment (TRD) sparing macula with macular atrophy, (d) Stage 4A: Subtotal TRD involving macula (e) Stage 4B: Subtotal TRD causing macular fold with exudation, (f) Stage 5: Total TRD

Figure 3

FA in FEVR (a) Abnormal vascular anastomosis and telangiectatic vessels (arrows), (b) Venous shunt vessels, (c) LAPPEL (late phase angiographic posterior and peripheral vascular leakage), (d) NVs at vascular-avascular junction causing leakage, (e) Diffuse leakage. (f) Macular distortion, narrowing of arcades secondary to ERM, PAR, and NVs causing leakage

Figure 4

(a) Verrucous stage of IP. (b) Fundus of IP infant showing PAR with NV and abnormal telangiectatic vessels (c) Fundus post laser treatment showing healed laser scars with NV regression in the same patient. (d) FA and ICGA images showing PAR and abnormal anastomotic vessels

Figure 5

Anterior PFV case in which the peripheral retina was continuous with the anterior fibrovascular tissue. Cutting the fibrovascular tissue resulted in an iatrogenic retinotomy (arrow). In this case, posterior hyaloid was separated, 360-degree laser photocoagulation and silicone tamponade were applied

Figure 6

RetCam fundus photo and handheld spectral domain OCT images of a 5-year-old male with congenital x-linked retinoschisis showing (a) Blunted foveal reflex (b, c) Central macular schisis involving the inner nuclear and outer plexiform layers and disruption of the ellipsoid zone at the fovea

Figure 7

Cross-sectional imaging in patients with confirmed disease causing biallelic mutations in RPE65. (a) 9 y old patient, (b) 19 y old patient, (c) 28 y old patient, (d) 32 y old patient, (e) 29 y old patient. Demonstrated is progression with age (a-d) and some phenotypic variability (d, e)

Figure 8

Fundus photos of the right eye (a, b, c) of a 9-year-old, with Stickler syndrome with a confirmed COL2A1 mutation, a) Normal at presentation, b) a giant retinal tear superiorly, a year later, c) attached retina with peripheral laser scars on the scleral buckle

Figure 9

(a) Fundus montage image of 14 y/o girl with ocular toxocariasis (positive serologies) with severe vitritis and engorged vessels. (b) Same patient with peripheral granuloma seen in the very far inferotemporal periphery. (c) Retcam image of the same patient with peripheral granuloma secondary to Toxocara (Image credit: Thomas Albini, MD-permission obtained)

Figure 10

Nonaccidental trauma (NAT)/shaken baby syndrome. (a, b) Normal fundus photograph of 5 months post NAT showing persistent peripheral non-perfusion on FFA, (c, d) Fundus photograph post NAT at presentation showing mild multilayer retinal hemorrhages with marked peripheral nonperfusion on FFA (e, f) Fundus photograph post NAT showing severe multi-layer retinal hemorrhages, (g, h) Fundus photograph 7 months post NAT showing a total RD and giant retinal tear

Figure 11

(a) Fundus photo of combined retinal and retinal pigment epithelium hamartoma (CHRRPE) -Ill-defined, greyish retinal lesion on the optic nerve, extending to the peripapillary retina, with a hyperpigmented margin, exudation, vessel tortuosity. (b) Fundus fluorescein angiogram - Early phase showed hypofluoresent peripapillary lesion with early punctate hyperfluorescence, and telangiectatic retinal vessels. Late phase showed increasing juxtapapillary leakage and juxtafoveal pigmented CNVM temporally

Figure 12

(a) Optos ® widefield fundus photo showing a small semilucent grayish white lesion located temporal to the macula. (b) Fundus fluorescein angiography showed a hyperfluorescent lesion with late leakage. (c) OCT showing hyperreflective lesion involving the inner retina layers

Figure 13

(a) Fundus photo showing reddish orange color lesion temporal to the disc. (b) OCT through the lesion showing the smooth choroidal elevation with complete replacement of the choroidal vasculature and exudative foveal detachment

Figure 14

(a) Fundus photo of large hemangioblastoma of the left optic nerve with submacular exudates and subretinal fluid. (b) Ocular ultrasound A and B scan showed medium to high intensity elevated mass. (c) Axial T1-weighted MRI image showed low density cystic lesion with a posterior peripheral soft tissue density that enhances homogeneously with IV contrast, likely a hemangioblastoma of the brain stem