H35.54 Dystrophies primarily involving the retinal pigment epithelium

ICD-10-CM Code H35.54: Dystrophies Primarily Involving the Retinal Pigment Epithelium

ICD-10-CM code H35.54 identifies dystrophies primarily involving the retinal pigment epithelium, classified under hereditary retinal dystrophy and disorders of the choroid and retina. This active diagnosis concept lacks a laterality axis and includes specific entities like Best disease. Clinical literature connects retinal pigment epithelium proteins to broader inherited retinal disease research. 1 3 5 2

Plain-language overview

Code H35.54 represents a disease or syndrome category for dystrophies primarily involving the retinal pigment epithelium, serving as an active terminology record within the ICD-10-CM system. 1 4

What this code represents

The diagnosis concept H35.54 is an active terminology record that falls under the parent concept H35.5, identified as hereditary retinal dystrophy, within the eye and adnexa disease chapter. 1 3

Specific clinical entities included under the H35.54 diagnosis code are vitelliform dystrophy, also known as Best disease, and pattern dystrophies affecting the retinal pigment epithelium. 5

Coding details

The diagnosis code H35.54 is a single billable code used for specificity, and unlike some other eye diagnosis codes, it does not possess a laterality character to distinguish right or left eyes. 5

Documentation considerations

The terminology record for H35.54 lists published abbreviations such as dystrophies primarily w the retinal pigment epithelium as part of its official concept data. 1

Clinical context

Research literature indicates that missense mutations in a retinal pigment epithelium protein called bestrophin-1 cause retinitis pigmentosa, linking specific protein defects to inherited retinal diseases. 2

Over two hundred seventy different genes responsible for hereditary retinal diseases have been characterized, and genetic testing for mutations in these genes is a mature clinical science. 2

What the sources add

While terminology records define H35.54 as a disease or syndrome without laterality, clinical literature adds context by describing ongoing trials using stem cell-derived retinal pigment epithelium for related conditions. 1 5 2

The terminology record establishes H35.54 as an active code with narrower concepts, whereas a separate coding source details its hierarchical placement within disorders of the choroid and retina. 1 3

Sources

1. ICD-10-CM H35.54 terminology record — National Cancer Institute Enterprise Vocabulary Services; accessed 2026-07-27.
2. Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano Symposium — pmc.ncbi.nlm.nih.gov; accessed 2026-07-27.
3. ICD-10 | Dystrophies primarily involving the retinal pigment epithelium (H35.54) — cdek.pharmacy.purdue.edu; accessed 2026-07-27.
4. EVS Explore — evsexplore.semantics.cancer.gov; accessed 2026-07-27.
5. Retinal Pigment Epithelium Dystrophy — moyae.com; accessed 2026-07-27.