Grand Rounds

1. Grand Rounds Marc Moore, MD June 2, 2007

2. HPI • 33 yo wf was shopping 2 months prior when she noticed blinking lights OU lasting 30 minutes. She has had no flashes since. Occasional floater OD. Seen by ophthalmologist who recommended further evaluation by retina due to exam findings.

3. History • MedHx: migraines, asthma, s/p BTL • OcHx: none • Meds: Advair, Albuterol, Flaxseed oil, MV • All: Vioxx, Paxil, Ketek, Levaquin, Macrodantin • SocHx: no tob, occ EtOH • FamHx: grandfatherblindness from unknown cause • ROS: negative

4. Exam VA: 20/20 OD 20/20 OS Mot: full OU CVF: full OU TD: 16 OD, 17 OS Pupils: no RAPD

5. Exam Lids: quiet OU Conj: quiet OU K: clear OU AC: D & Q OU Iris: no NVI OU Lens: clear OU Ant Vit: quiet OU

6. Fundus Photo OD

7. Fundus Photo OS

8. Differential • Early-onset ARMD • Cuticular / Basal laminar drusen • Fundus flavimaculatus • Fundus albipunctatus • Familial Drusen • North Carolina macular dystrophy • Malattia Leventinese • Doyne honeycomb retinal dystrophy • Retinitis punctata albescens • White Dot Syndromes

10. Differential • Early-onset ARMD • Cuticular / Basal laminar drusen • Fundus flavimaculatus • Fundus albipunctatus • Familial Drusen • North Carolina macular dystrophy • Malattia Leventinese • Doyne honeycomb retinal dystrophy • Retinitis punctata albescens • White Dot Syndromes

11. Basal Laminar Drusen • In 1977, Dr. Gass described a syndrome characterized by the funduscopic findings • “innumerable, small, uniform sized, discretely round, slightly raised, yellow, subretinal lesions that fluoresced discretely during early arteriovenous phase to give a beautiful stars-in-the-sky appearance in the fundus”

12. Basal Laminar Drusen • Occur more commonly in women • Occur in relatively young patients and those with a highly pigmented fundus • Drusen are usually 25 to 75 μm in size • Nodular thickening of basement membrane of RPE • Likely the product of a dystrophic disease of the pigment epithelium

14. BLD differs from ARMD • Visual symptoms occur less frequently and usually detected 5-10 years earlier • Rate of visual loss after onset of symptoms is slower • Spontaneous improvement in acuity is more likely to occur • Development of geographic atrophy is higher • CNVM and large exudative detachments of RPE probably lower • Prognosis for retention of central vision is better

15. Complications of BLD • Gass et al (1985) studied 41 pt with BLD • 17 of 41 developed visual loss caused by vitelliform exudative retinal detachment in the macula of one or both eyes • Spontaneous resolution of the detachment and retention of good visual acuity occurred frequently

16. Vitelliform Macular Detachment with BLD • 56 yo female diagnosed with BLD • Over 5 yr period, progression of vitelliform macular detachment that gave way to geographic atrophy • Pt unable to read without low-vision aids

17. Vitelliform Macular Detachment with BLD

18. Complications of BLD • Cohen et al analyzed 19 pts with BLD + vitelliform macular detachment • Mean final VA 20/50 • 16 of 38 eyes were 20/40 or better • 12 of 19 pts were 20/40 or better in at least one eye • CNVM observed in 12 out of 38 eyes (31%) • 2/3 with CNVM at time of presentation (? referral bias) • Recommend close follow-up

19. Type II Mesangiocapillary glomerulonephritis (MCGN) • Renal disorder with proliferation of mesangial cells & alterations in BM of the glomerulus • Type II with electron-dense ribbonlike deposits • Associated with hypocomplementemia, partial lipodystrophy and higher incidence of diabetes

20. Type II Mesangiocapillary glomerulonephritis (MCGN) • BLD and typical drusen occur frequently in macular region • Deposits increase in number and size with age • Occur more frequently in pts with lipodystrophy • Most pts asymptomatic although some may develop CNVM at early age

21. Basal Laminar Drusen vs. ARMD Drusen • Russell et al (2000) immunohisto-chemically examined an enucleated eye with BLD vs. 2 eyes with ARMD • Like ARMD, BLD deposits are located between RPE and Bruch’s membrane • Basal laminar drusen were bound by the same markers as ARMD drusen

23. Basal Laminar Drusen vs. ARMD Drusen • BL drusen were not labeled by basal laminae specific antibodies • Same carbohydrate and protein composition in both • Conclusion: BL drusen are not composed of nodular thickenings of the BM of RPE • Suggest “early adult onset, grouped drusen” or “Gass syndrome”

25. Management • No formal guidelines for management of BLD • No evidence that vitamins are effective • Most authors advocate yearly exams, advising pts to be seen earlier if they experience visual changes • No recommended injection or laser treatment to prevent complications

26. Conclusions • There is still debate as to the precise composition and location of BLD • Pts with Type II MCGN frequently have BLD and should have ophthalmologic evaluation after diagnosis • Pts with BLD must be monitored for complications such as CNVM and exudative detachments

27. References • Albert DM, Jakobiec FA. Principles and Practice of Ophthalmology (2nd ed.). W.B. Saunders Co, Philadelphia 2000. • Cohen SY, Meunier I, Soubrane G, Glacet-Bernard A, Coscas GJ. Visual function and course of basal laminar drusen combined with vitelliform macular detachment. Br J of Ophthalmol 78 (1994) pp 437-440. • Gass JD. Stereioscopic atlas of macular diseases: diagnosis and treatment (4th ed.), Mosby, St Louis 1997. • Gass JD, Jallow S, and Davis B. Adult vitelliform macular detachment occurring in patients with basal laminar drusen. Am J Ophthalmol 99 (1985). pp.445-459. • Meunier I, Cohen SY, Debibie C, Quentel G. Five-Year Evolution of Basal Laminar Drusen Combined With Vitelliform Macular Detachment. Arch Ophthalmol 2004; 122:1566. • Russell SR, Mullins RF, Schneider BL, Hageman GS. Location, substructure, and composition of basal laminar drusen compared with drusen associated with aging and age-related macular degeneration. Am J Ophthalmol. 2000 Feb;129(2):205-14.