Combined ocular involvement in juvenile glaucoma and Best disease

PURPOSE. Monitoring of a patient with a rare combined pathology of juvenile open-angle glaucoma (JOAG) and Best disease (Best vitelliform macular dystrophy, BVMD).
METHODS. Visometry, autorefractometry, tonometry, gonioscopy, biomicroscopy, ophthalmoscopy, ocular ultrasound, digital fundus photography, optical coherence tomography angiography (OCT-A).
RESULTS. A 32-year-old male patient reported a long-standing fog before his right eye, a spot, progressive visual impairment in both eyes (more pronounced in the right eye), eye redness, and poor tolerance to hypotensive eye drops. He was previously diagnosed with Best disease and JOAG in both eyes. Fundus photography and OCT-A revealed retinal changes characteristic of JOAG. The patient exhibited poor tolerance to topical glaucoma medications, experiencing significant conjunctival hyperemia and ocular pain. A well-tolerated antiglaucoma regimen was established, consisting of a fixed combination of bimatoprost 0.3 mg/ml and timolol 5 mg/ml (BIMOKKO-SZ); dorzolamide 20 mg/ml (Dorzolamide-SZ); and brimonidine 2 mg/ml (Brimonidine-SZ) (all manufactured by NAO Severnaya Zvezda, Russia). Vision, intraocular pressure, and OCT-A parameters stabilized.
During the follow-up, retinal thickening exceeding 700 µm was observed, with a risk of inner retinal layer rupture and macular hole formation. Emergence of new choroidal vessels and active choroidal neovascularization were oserved. Intravitreal aflibercept injection was administered, resulting in disease stabilization.
CONCLUSION. The combination of JOAG and Best disease requires personalized monitoring and treatment selection, including conservative, laser, surgical, and antiangiogenic therapies as needed. Patient follow-up is ongoing.

1. Somarajan B.I., Gupta S., Mahalingam K., Azmira K., Gupta V. Digenic inheritance in juvenile open-angle glaucoma. J Pediatr Genet 2021; 12(2):150-154. https://doi.org/10.1055/s-0040-1722213.

2. Selvan H., Gupta S., Wiggs J.L., Gupta V. Juvenile-onset open-angle glaucoma – A clinical and genetic update. Surv Ophthalmol 2022; 67(4):1099-1117. https://doi.org/10.1016/j.survophthal.2021.09.001.

3. Helwe H., Samuel S., Gupta S., Neeson C., Chachanidze M., Solá-Del Valle D.A. Case Report: Reversal and subsequent return of optic disc cupping in a myocilin (MYOC) gene-associated severe Juvenile Open-Angle Glaucoma (JOAG) patient. F1000Res. 2022; 11:1361. https://doi.org/10.12688/f1000research.127871.1.

4. Almulhim A., Almulhim A. Age, Sex, and Clinical Characteristics of Juvenile Open-Angle Glaucoma Patients in a Saudi Tertiary Hospital: A Retrospective Study of Surgical and Non-Surgical Outcomes. Medicina (Kaunas) 2024; 60(10):1591. https://doi.org/10.3390/medicina60101591.

5. Shi Y., Wang H., Oatts J.T., Xin C., Yin P., Zhang L., Tian J., Zhang Y., Cao K., Han Y., Wang N. A Prospective Study of Intraocular Pressure Spike and Failure After Gonioscopy-Assisted Transluminal Trabeculotomy in Juvenile Open-Angle Glaucoma: A Prospective Study of GATT in JOAG. Am J Ophthalmol 2022; 236:79-88. https://doi.org/10.1016/j.ajo.2021.10.009.

6. Katargina L.A., Denisova E.V., Arestova N.N., Kruglova T.B., Osipova N.A., Novikova O.V. OCT-Angiography for the Diagnosis and Monitoring of Best’s Disease. Ophthalmology in Russia 2019; 16(1S):79-84. https://doi.org/10.18008/1816-5095-2019-1S-79-84

7. Johnson A.A., Guzevich K.E., Lee C.J., Kalathur RC, Pulido JS, Marmorstein L.Y., Marmorstein A.D. Bestrophin 1 and retinal diseases. Prog Retin Eye Res 2017; 58:45-69. https://doi.org/10.1016/j.preteyeres.2017.01.006.

8. Makuloluwa A., Madhusudhan S. Clinical outcomes of treated macular neovascularisation secondary to inherited retinal diseases: a literature review. BMJ Open Ophthalmol 2023; 8(1):e001309. https://doi.org/10.1136/bmjophth-2023-001309.

9. Adiyeke S.K., Ture G. Choroidal Neovascularization Associated with Best Vitelliform Macular Dystrophy. Beyoglu Eye J 2022; 7(2):103-108. https://doi.org/10.14744/bej.2022.54376.

10. Gómez-Benlloch A., Garrell-Salat X., Cobos E., López E., Esteve-Garcia A., Ruiz S., Vázquez M., Sararols L., Biarnés M. Optical Coherence Tomography in Inherited Macular Dystrophies: A Review. Diagnostics (Basel) 2024; 14(9):878. https://doi.org/10.3390/diagnostics14090878.

11. Qaseem Y., German O., Cicinelli M.V., Mirza R.G. The Role of Optical Coherence Tomography Angiography (OCTA) in Detecting Choroidal Neovascularization in Different Stages of Best Macular Dystrophy: A Case Series. Medicina (Kaunas) 2021; 57(3):213. https://doi.org/10.3390/medicina57030213.

12. Parodi M.B., Arrigo A., Bandello F. Optical Coherence Tomography Angiography Quantitative Assessment of Macular Neovascularization in Best Vitelliform Macular Dystrophy. Invest Ophthalmol Vis Sci 2020; 61(6):61. https://doi.org/10.1167/iovs.61.6.61.

13. Tarasenkov A.O. Classification, diagnosis and treatment of juvenile glaucoma. Russian Annals of Ophthalmology 2021; 137(4):123-127. https://doi.org/10.17116/oftalma2021137041123

14. Jafer Chardoub A.A., Zeppieri M., Blair K. Juvenile Glaucoma. Stat-Pearls [Internet]. 2025; Treasure Island (FL).

15. Djumova M.F., Marchenko L.N., Chekina A.Yu., Djumova A.A., Dolgaya E.V. Classification, genetic aspects of pathogenesis, treatment of juvenile glaucoma. Ophthalmology Eastern Europe 2024; 14(2): 229-238. https://doi.org/10.34883/PI.2024.14.2.021

16. Nazirova ZR, Turakulova DM, Buzrukov SB. Surgical treatment of congenital glaucoma in children using Glautex drainage. Russian Annals of Ophthalmology 2020; 136(6):202-206. https://doi.org/10.17116/oftalma2020136062202

17. Khan K.N., Mahroo O.A., Islam F., Webster A.R., Moore A.T., Michaelides M. Functional and anatomical outcomes of choroidal neovascularization complicating best1-related retinopathy. Retina 2017; 37(7):1360-1370. https://doi.org/10.1097/IAE.0000000000001357.

18. Tewari R., Kumar V., Ravani R., Dubey D., Chandra P., Kumar A. Macular hole-associated retinal detachment in Best vitelliform dystrophy: Series of two cases and literature review. Indian J Ophthalmol 2018; 66(5):708-711. https://doi.org/10.4103/ijo.IJO_1046_17.