Optical coherence tomography in children with inherited retinal disease

Figures & data

Figure 1. Distribution of inherited retinal diseases (IRDs) in the 102 peer-reviewed papers included in this review. Publications identified through Pubmed and Embase literature review (to July 2022).

Figure 2. A nine-year-old patient with STGD1 (A) with an observable thickening of the ELM compared to an age-matched control (B). STGD1 image courtesy of Dr Jonathan Ruddle, Melbourne Children’s Eye Clinic. Control image provided by Dr Marianne Coleman from the Australian College of Optometry.

Table 1. Summary of paediatric OCT findings in different LCA genotypes.

Gene	Findings
	Reduced outer nuclear layer (paediatric)	Disrupted ellipsoid zone (paediatric)	Near-normal retinal structure (paediatric/adults)
RPGRIP1	Yes^Citation48,Citation49	Yes^Citation48	No^Citation48
GUCY2D	No^Citation46	No^Citation45,Citation46,Citation50	Yes^Citation51,Citation52,Citation122
RPE65	Yes^Citation45,Citation46	Yes^Citation122	No^Citation46

Figure 3. Ellipsoid zone disruption shown on a 9-year-old USH1 patient (A) compared to control (B). Usher syndrome image provided by Dr Jonathan Ruddle, Melbourne Children’s Eye Clinic. Control image provided by Dr. Marianne Coleman from the Australian College of Optometry.

Figure 4. Optical coherence tomography (OCT) image of a 7-year-old patient with XLRS due to an RS1 mutation. Image courtesy of Dr Jonathan Ruddle, Melbourne Children’s Eye Clinic.

Table 2. Summary of the key OCT findings from the seven IRDs discussed in this review.

Disease Type	Summary of Paediatric OCT Features
Stargardt Disease	ABCA4 Annual EZ loss of 1.20 ± 1.29 mm^2/year^Citation24 Foveal thinning^Citation25 Thickening/increased reflectivity in ELM (can precede symptoms)^Citation28–30 ELOVL4 Thinning/atrophy of outer nuclear layer and EZ disruption^Citation31 Thickening of ELM^Citation31
Leber’s Congenital Amaurosis	RPE65 Reduced outer nuclear layer thickness in mid-periphery^Citation45,Citation46 RPGRIP1 Reduced outer nuclear layer worsening with age^Citation48,Citation49 GUCY2D Relatively normal OCT appearance^Citation46
Choroideremia	CHM1 Outer nuclear layer thinning and inner retinal thickening in second decade of life^Citation58 Shortening of PR outer segments^Citation58 Decrease in superficial and deep inner retinal capillary plexus^Citation61 Increase in Central retinal thickness^Citation61
X-linked Retinitis Pigmentosa	RPGR Foveal PR outer segment thinning^Citation72 Decline in visual sensitivity outside of ellipsoid zone band^Citation73 Severe phenotype female carriers with normal foveal contours and RPE^Citation75
Usher Syndrome	MYO7A Loss of macula photoreceptors^Citation60 Outer nuclear layer loss^Citation78 Absent external limiting membrane, disrupted ellipsoid zone, absent cone outer segments and loss of PR/RPE all common^Citation86
X-linked Retinoschisis	RS1 Inner nuclear layer schisis primarily in the macula^Citation97–102 RS1 Phenotype which spares macula (peripheral schisis outer nuclear layer)^Citation103 Increase in central foveal thickness not correlating to worsened visual acuity^Citation98,Citation101 Reduced photoreceptor outer segment length correlating to worsened visual acuity^Citation107
Batten Disease	CLN3 Retinal nerve fibre layer atrophy helps distinguish from Stargardt^Citation114 Atrophy of outer nuclear later/outer plexiform layer, complete loss of photorecptors, ganglion cell layer and retinal nerve fibre layer atrophy^Citation115 Normal choroidal thickness^Citation115 Ocular dysfunction strongly correlated with cognitive dysfunction^Citation119 (and CLN2^Citation119

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