Axenfeld-Reiger syndrome: A search for the missing links

Table 1 Demographic characteristics of cases of Axenfeld-Rieger syndrome (N = 10)

Case No.		Age (yr)	Sex	Religion	Residence
Familial cases
Family 1	Case 1	11	Male	Hindu	Barmer, Rajasthan, India
	Case 2	9	Female	Hindu	Barmer, Rajasthan, India
Family 2	Case 3	20	Male	Hindu	Pali, Rajasthan, India
	Case 4	17	Male	Hindu	Pali, Rajasthan, India
	Case 5	11	Male	Hindu	Pali, Rajasthan, India
	Case 6	6	Male	Hindu	Pali, Rajasthan, India
Sporadic cases
Case 7		1	Male	Hindu	Jodhpur, Rajasthan, India
Case 8		28	Male	Hindu	Barmer, Rajasthan, India
Case 9		34	Male	Hindu	Jaisalmer, Rajasthan, India
Case 10		19	Male	Hindu	Jodhpur, Rajasthan, India

Table 2 Symptoms and treatment history of cases of Axenfeld-Rieger syndrome (N = 10)

Case No.	Symptoms	Duration	Previous treatment (in both eyes)	Symptomatic	Diagnosed on active search
Case 1	Decreased vision	2 yr	Eye Drop Travoprost 0.004% HS; Eye Drop Brimonidine 0.2% + Timolol 0.5% BD; Eye Drop Dorzolamide 2% TDS	Yes	No
	Photophobia	2 mo
	Pain	2 mo
	Watering	2 mo
Case 2	Decreased vision in left eye	Since childhood	None	Yes	Yes
	Right eye lost to trauma	3 yr
Case 3	Decreased vision in both eyes	Since childhood	None	Yes	No
Case 4	Burning sensation and itching in both eyes	1 yr	Eye drop Travoprost 0.004% HS; Eye drop Brimonidine 0.2% + Timolol 0.5% BD	Yes	Yes
Case 5	None	NA	None	No	Yes
Case 6	None	NA	None	No	Yes
Case 7	Blinking, crying and watering of both eyes on exposure to light	8 mo	None	Yes	No
Case 8	Decreased vision in both eyes	15 yr	Trabeculectomya	Yes	No
Case 9	None; Diagnosed glaucoma in both eyes	17 yr	Eye drop Brimonidine 0.2% BD	Yes	No
Case 10	Decreased vision in both eyes	5 yr	Eye drop Brimonidine 0.2% + 0.5% Timolol BD	Yes	Yes

^aNo documents pertaining to this surgery were available for review.

HS: At night; BD: Twice daily; TDS: Thrice daily; NA: Not applicable.

Table 3 Visual acuity and intraocular pressure of cases of Axenfeld-Rieger syndrome (N = 10)

Case No.	Vision BCVA (logMAR)		IOP (mmHg)
	RE	LE	RE	LE
Case 1	2.5	2.5	42	28
Case 2	a	1.3	a	36
Case 3	0.3	HMCF	22	42
Case 4	0.5	2.5	14	16
Case 5	0.0	0.0	16	14
Case 6	0.0	0.0	32	26
Case 7	NA	NA	26	26
Case 8	0.5	2.5	15	16
Case 9	1.8	1.8	18	19
Case 10	0.4	0.4	24	25

^aEye lost to trauma.

BCVA: Best corrected visual acuity; IOP: Intraocular pressure; RE: Right eye; LE: Left eye; HMCF: Hand movements close to face; NA: Visual acuity unrecordable on logMAR chart.

Table 4 Anterior segment findings in cases of Axenfeld-Rieger syndrome based on slit-lamp biomicroscopy (N = 10)

Sr. No.	Corneal abnormalities		Iris tissue abnormalities						Associated ocular features
	Posterior embryotoxon		Corectopia		Polycoria		Iris hypoplasia
	RE	LE	RE	LE	RE	LE	RE	LE
Case 1	+	+	+	+	+	+	+	-	LSCD BE, PAS on Gonioscopy BE
Case 2	NA	+	NA	-	NA	-	NA	+	Corneal oedema, Nystagmus, Aniridia LE
Case 3	+	+	-	+	-	+	-	-	Mature cataract LE, 360° NVI LE
Case 4	+	-	-	+	-	+	-	-	BE cobblestone papillae with RE Shield’s Ulcer s/o VKC, Cornea Plana, Corneal oedema BE
Case 5	+	+	-	-	-	-	-	-	-
Case 6	+	+	-	-	-	-	-	-	-
Case 7	+	+	-	-	-	-	-	-	BE Corneal Haze
Case 8	+	+	-	-	-	+	-	-	Nystagmus, LE Large Surgical PI, Well-formed functioning bleb BE
Case 9	+	+	+	+	+	+	+	+
Case 10	+	+	+	+	+	+	+	+

BCVA: Best Corrected Visual Acuity; IOP: Intraocular Pressure; RE: Right eye; LE: Left eye; BE: Both eyes; LSCD: Limbal Stem Cell Deficiency; PAS: Peripheral Anterior Synechiae; PI: Peripheral iridectomy; NVI: Neovascularization of iris; s/o: Suggestive of; VKC: Vernal keratoconjunctivitis; NRR: Neuroretinal rim.

Table 5 Posterior segment findings of cases of Axenfeld-Rieger syndrome (N = 10)

Sl. No.	Fundus findings		OCT-RNFL		B-Scanb
	RE	LE	RE	LE
Case 1	C:D 0.9	Glaucomatous Optic Atrophy	CNBA	CNBA	ND
Case 2	a	No view due to hazy media	a	CNBA	ND
Case 3	C:D 0.8	No view due to hazy media	CNBA	CNBA	ND
Case 4	C:D 0.4	No view due to hazy media	CNBA	CNBA	WNL BE
Case 5	C:D 0.3	C:D 0.3	WNL	WNL	WNL BE
Case 6	C:D 0.6	C:D 0.6	WNL	WNL	WNL BE
Case 7	C:D 0.9	C:D 0.9	CNBA	CNBA	WNL BE
Case 8	C:D 0.8, Tilted Disc, Peripapillary Atrophy	C:D 0.8, Tilted Disc, Peripapillary Atrophy	CNBA	CNBA	WNL BE
Case 9	C:D 0.8, Circumferential NRR thinning	C:D 0.8, Circumferential NRR thinning	CNBA	CNBA	WNL BE
Case 10	C:D 0.5	C:D 0.5	WNL	WNL	WNL BE

^aEye lost to trauma.

^bComments on vitreous, retinochoroid and sclera on B-scan USG.

Optic nerve head findings are as clinically correlated. C:D: Cup: Disc ratio; NRR: Neuroretinal rim; CNBA: Could not be acquired; ND: Not done; WNL: Within normal limits.