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 Table of Contents  
CASE REPORT
Year : 2021  |  Volume : 1  |  Issue : 4  |  Page : 689-691

Cuticular drusen: Age-related macular degeneration in the young - A case report


Department of Ophthalmology, Sarojini Devi Eye Hospital, Osmania Medical College, Hyderabad, Telangana, India

Date of Submission29-Dec-2020
Date of Acceptance13-Mar-2021
Date of Web Publication09-Oct-2021

Correspondence Address:
Dr. Rajalingam Vairagyam
Head of Vitreo-Retina Department, Professor and Superintendent, Sarojini Devi Eye Hospital, Osmania Medical College, Hyderabad - 500 095, Telangana
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijo.IJO_3780_20

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  Abstract 


A 30-year-old woman presented to the OPD, and during the course of her retinal examination she was seen to have multiple drusen in both the eyes. Based on her age, drusen appearance, distribution, autofluorescence, star in the sky appearance on angiography, and sub-RPE location on SD-OCT, she was diagnosed as having Cuticular drusen also called Basal laminar drusen. The perifoveal drusen had clustering and confluence with intermediate-stage AMD features. Thus, we report a rarely seen phenomenon of macular degeneration in a young woman with Cuticular drusen phenotype, which has genetic and systemic implications.

Keywords: Age-related macular degeneration, Basal laminar drusen, Cuticular drusen, early-onset drusen


How to cite this article:
Hansraj S, Sultana A, Vairagyam R. Cuticular drusen: Age-related macular degeneration in the young - A case report. Indian J Ophthalmol Case Rep 2021;1:689-91

How to cite this URL:
Hansraj S, Sultana A, Vairagyam R. Cuticular drusen: Age-related macular degeneration in the young - A case report. Indian J Ophthalmol Case Rep [serial online] 2021 [cited 2021 Oct 26];1:689-91. Available from: https://www.ijoreports.in/text.asp?2021/1/4/689/327637



Drusen are a manifestation of the normal aging process or a sign of retinal degeneration. Studies have shown that drusen can also be seen in individuals as young as 18 years old. In fact, in some cohorts, 30% of individuals may have drusen. These drusen are generally less than 63 μ in size.[1]

Drusen in individuals <50 years of age, are called as early-onset drusen (EOD). They have been classified as either Cuticular drusen (CD) also known as Basal laminar drusen (BLD), large colloid drusen (LCD), or drusen associated with malattia leventinese (ML).[2]

CD is considered a specific variant of Age-Related Macular degeneration (AMD). 10% of patients with AMD will also have CD. They usually occur 10 years earlier than “classic” AMD.

CD are also seen in individuals with type 2 Membranoproliferative Glomerulonephritis (MPGN). Such drusen are more extensive and may appear as early as the 2nd decade of life. They are seen in 80% patients with MPGN. Patients with extensive drusen at a younger age should have a nephrology opinion taken and vice versa.[3]


  Case Report Top


A 30-year-old woman presented with complaints of unsatisfactory vision. There were no other ocular complaints. She had a past history of intervertebral disc prolapse in the lumbar spine at 19 years of age, two missed abortions at 25 years of age, subsequent to which she was diagnosed with Poly Cystic Ovarian Syndrome.

Her uncorrected visual acuity OU was 20/40, N6; which improved to 20/20 with spectacle correction. No significant anterior segment findings were observed. Color vision on Ishihara plates was normal. Confrontation test was also normal. Retina in both eyes had yellow, sub retinal deposits in the posterior pole, involving the fovea, with symmetrical pattern in both eyes. The lesions away from fovea were smaller, whitish-yellow with a red halo, whereas perifoveal lesions were larger, fainter in color, with less distinct borders [Figure 1].
Figure 1: (original) (a) Right eye (b) Left eye. Both eyes have raised, yellow, drusen in the macula, near periphery, and a few drusen in the mid periphery. The perifoveal drusen are larger, fainter, confluent with a softer appearance. The peripheral drusen are brighter. Initial clustering seems evident in a few peripheral drusen as well

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Fundus camera autofluorescence revealed a stippled pattern. Most of the lesions had hypoautofluorescent centers with hyperautofluorescent borders. The perifoveal lesions had a few areas of confluent hyperautofluorescence [Figure 2].
Figure 2: (original). (a) Right eye (b) Left eye. Fundus camera autofluorescence showing appearance of lesions with hypoautofluorescent center with a ring of hyperautofluorescence, which is typical of Cuticular Drusen. In both eyes, larger hyperautofluorescent lesions are present in the macula indicative of confluence of earlier drusen into larger softer drusen

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Fundus Fluorescein angiography showed hyperfluorescent spots in early A-V phase. They had a “Star in the Sky” appearance and faded in the very late phase along with fading of the background choroidal fluorescence. There was neither leakage of dye nor any change in size in any phase of the angiography [Figure 3].
Figure 3: (original) (a) Fundus Fluorescein Angiography showed hyperfluorescent spots in early A-V phase, corresponding to the hypoautofluorescent lesions. More lesions can be made out on angiography than with color fundus photography. (b) “Star in the Sky” appearance seen her in venous phase of Fundus Fluorescein Angiography. (c) Lesions faded in the very late phase along with fading of the background choroidal fluorescence. There was neither leakage of dye nor any change in size in any phase of the angiography

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Spectral-domain optical coherence tomography showed RPE elevations with sub RPE material. Mean height of RPE elevations was 82.5μ, (range 55-115μ); mean base diameter of 201μ, (range of 125-339μ). The neural retinal layers were spared [Figure 4].
Figure 4: (original). SD-OCT of Right Eye (a and c) and Left Eye (b, d-f). RPE elevations with subretinal material present. The retinal layers are spared. Contour of the outer retinal layers is altered. There are hyperreflective downgrowths from the OPL over the RPE elevations. This might be due to change in reflectivity, caused by the altered contours. The largest drusen with a base diameter of 339μ seen in scan (e). Scan (f) shows confluence of drusen with a combined basal diameter of 992μ. The drusen reflectivity is variable and likely due to heterogeneity in composition and different stages of the life cycle

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Retinal examination of her family members revealed no pathology, reducing the likelihood of a familial disease. ERG and EOG studies were within normal limits. She was not in favor of undergoing genetic investigations.

On the basis of our clinical examination and ancillary investigations, we diagnosed her with Cuticular Drusen. A nephrology opinion was taken to exclude MPGN. We counseled her regarding AMD and the higher risk of advanced AMD in her case, the possibility of genetic mutation causing early-onset drusen, taught her how to use a home Amsler Grid Chart and instructed her to come for annual follow-ups.


  Discussion Top


CD remain an ill-defined entity. Imaging features in consensus include its sub-RPE location on OCT and the starry-sky pattern on FA.[4]

Balaratnasingam et al. described the features of CD in great detail.[4]

Sakurada et al. studied CD in adults greater than age 58 years and classified them into three patterns. Type 1 had small drusen while type 2 and 3 had larger drusen. They discovered that type 2 and 3 pattern had a 50% 5-year risk of advanced AMD.[5]

Our patient also has larger drusen. The literature describes CD having size less than 90μ, but that need not be true as seen in our patient and as demonstrated by them.

CD comprised 67% of the EODs studied by Guigui et al. and they have a 29 percent risk of advanced AMD.[2]

The CD phenotype has a strong association with genetic variants in the CFH, ARMS2, CFB/C2, C3, and APOE genes. It is most commonly associated with the CFH p.Tyr402His variant which may be seen in up to 70% cases of CD.[3]

Ours is the only report which demonstrates CD in a young South Asian. Our report also highlights the rare phenomenon of large drusen at this young age. The existing clinical consensus defines AMD in individuals greater than 55 years of age.[6] Our patient despite being just 30 years of age already has Intermediate AMD with multiple large drusen greater than 200μ with “soft” morphology! AMD is a multifactorial disease with multiple phenotypes, with CD being one of these. We in fact prefer to diagnose our patient as AMD with CD phenotype. Advanced age is the biggest risk factor for AMD, but that need not be the case in rare instances, such as ours. Whether manifesting in the young or elderly, CD are associated with advanced AMD at a high rate. We should regularly follow-up such patients. Such patients are also a new source of research into AMD.


  Conclusion Top


There is a risk that CD may be misdiagnosed as hard drusen, Stargardts disease, Pattern dystrophy or Vitelliform dystrophy. However CD have a higher risk of Geographic atrophy or macular neovascularization, and thus it would be harmful for patients if it were to be misdiagnosed. Our report has illustrated the imaging features which help correctly diagnose CD.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Pedersen HR, Gilson SJ, Dubra A, Munch IC, Larsen M, Baraas RC. Multimodal imaging of small hard retinal drusen in young healthy adults. Br J Ophthalmol 2018;102:146-52.  Back to cited text no. 1
    
2.
Guigui B, Leveziel N, Martinet V, Massamba N, Sterkers M, Coscas G, et al. Angiography features of early onset drusen. Br J Ophthalmol 2011;95:238-44.  Back to cited text no. 2
    
3.
Boon CJ, van de Ven JP, Hoyng CB, den Hollander AI, Klevering BJ. Cuticular drusen: Stars in the sky. Prog Retin Eye Res 2013;37:90-113.  Back to cited text no. 3
    
4.
Balaratnasingam C, Cherepanoff S, Dolz-Marco R, Killingsworth M, Chen FK, Mendis R, et al. Cuticular Drusen: Clinical phenotypes and natural history defined using multimodal imaging. Ophthalmology 2018;125:100-18.  Back to cited text no. 4
    
5.
Sakurada Y, Parikh R, Gal-Or O, Balaratnasingam C, Leong BCS, Tanaka K, et al. Cuticular drusen: Risk of geographic atrophy and macular neovascularization. Retina 2020;40:257-65.  Back to cited text no. 5
    
6.
Ferris FL 3rd, Wilkinson CP, Bird A, Chakravarthy U, Chew E, Csaky K, et al. Clinical classification of age-related macular degeneration. Ophthalmology 2013;120:844-51.  Back to cited text no. 6
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4]



 

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